Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45514751_45514756delinsTTCACA , CM000683.2:g.45514751_45514756delinsTTCACA	GRCh38
NC_000021.8:g.46934665_46934670delinsTTCACA , CM000683.1:g.46934665_46934670delinsTTCACA	GRCh37
NC_000021.7:g.45759093_45759098delinsTTCACA	NCBI36
NG_011903.1:g.114560_114565delinsTTCACA
NG_028278.1:g.32716_32721delinsTGTGAA
NG_028278.2:g.53388_53393delinsTGTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.902_907delinsTGTGAA MANE Select	ENSP00000308895.4:n.902_907delinsTGTGAA
ENST00000650808.1:c.220_225delinsTGTGAA	ENSP00000498221.1:n.220_225delinsTGTGAA
ENST00000311124.8:c.902_907delinsTGTGAA	ENSP00000308895.4:n.902_907delinsTGTGAA
ENST00000380010.8:c.220_225delinsTGTGAA	ENSP00000369347.4:n.220_225delinsTGTGAA
ENST00000417954.5:c.497+11061_497+11066delinsTGTGAA
ENST00000460174.1:n.386+140_386+145delinsTGTGAA
ENST00000468508.1:n.238+140_238+145delinsTGTGAA
ENST00000567670.5:c.1293+11061_1293+11066delinsTGTGAA	ENSP00000457278.1:n.1293+11061_1293+11066delinsTGTGAA
NM_001205206.1:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.1:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_194255.2:c.902_907delinsTGTGAA	NP_919231.1:n.902_907delinsTGTGAA
XM_005261164.2:c.902_907delinsTGTGAA	XP_005261221.1:n.902_907delinsTGTGAA
XM_011529696.1:c.902_907delinsTGTGAA	XP_011527998.1:n.902_907delinsTGTGAA
XM_011529697.1:c.902_907delinsTGTGAA	XP_011527999.1:n.902_907delinsTGTGAA
XM_011529698.1:c.902_907delinsTGTGAA	XP_011528000.1:n.902_907delinsTGTGAA
XM_011529699.1:c.902_907delinsTGTGAA	XP_011528001.1:n.902_907delinsTGTGAA
XM_011529700.1:c.902_907delinsTGTGAA	XP_011528002.1:n.902_907delinsTGTGAA
XM_011529701.1:c.902_907delinsTGTGAA	XP_011528003.1:n.902_907delinsTGTGAA
XM_011529702.1:c.902_907delinsTGTGAA	XP_011528004.1:n.902_907delinsTGTGAA
XM_011529703.1:c.902_907delinsTGTGAA	XP_011528005.1:n.902_907delinsTGTGAA
XM_011529704.1:c.902_907delinsTGTGAA	XP_011528006.1:n.902_907delinsTGTGAA
XM_011529705.1:c.220_225delinsTGTGAA	XP_011528007.1:n.220_225delinsTGTGAA
XM_011529706.1:c.902_907delinsTGTGAA	XP_011528008.1:n.902_907delinsTGTGAA
XM_011529707.1:c.1584+11061_1584+11066delinsTGTGAA	XP_011528009.1:n.1584+11061_1584+11066delinsTGTGAA
XM_011529708.1:c.902_907delinsTGTGAA	XP_011528010.1:n.902_907delinsTGTGAA
XM_011529709.1:c.902_907delinsTGTGAA	XP_011528011.1:n.902_907delinsTGTGAA
XM_011529710.1:c.902_907delinsTGTGAA	XP_011528012.1:n.902_907delinsTGTGAA
NM_001205206.2:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.2:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_001352510.1:c.902_907delinsTGTGAA	NP_001339439.1:n.902_907delinsTGTGAA
NM_001352511.1:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA
NM_001352512.1:c.902_907delinsTGTGAA	NP_001339441.1:n.902_907delinsTGTGAA
NM_194255.3:c.902_907delinsTGTGAA	NP_919231.1:n.902_907delinsTGTGAA
XM_011529696.2:c.902_907delinsTGTGAA	XP_011527998.1:n.902_907delinsTGTGAA
XM_011529698.2:c.902_907delinsTGTGAA	XP_011528000.1:n.902_907delinsTGTGAA
XM_011529700.2:c.902_907delinsTGTGAA	XP_011528002.1:n.902_907delinsTGTGAA
XM_011529701.2:c.902_907delinsTGTGAA	XP_011528003.1:n.902_907delinsTGTGAA
XM_011529702.2:c.902_907delinsTGTGAA	XP_011528004.1:n.902_907delinsTGTGAA
XM_011529703.2:c.902_907delinsTGTGAA	XP_011528005.1:n.902_907delinsTGTGAA
XM_011529706.3:c.902_907delinsTGTGAA	XP_011528008.1:n.902_907delinsTGTGAA
XM_011529709.2:c.902_907delinsTGTGAA	XP_011528011.1:n.902_907delinsTGTGAA
XM_017028443.1:c.902_907delinsTGTGAA	XP_016883932.1:n.902_907delinsTGTGAA
XM_017028444.1:c.220_225delinsTGTGAA	XP_016883933.1:n.220_225delinsTGTGAA
XM_017028445.2:c.1584+11061_1584+11066delinsTGTGAA	XP_016883934.1:n.1584+11061_1584+11066delinsTGTGAA
NM_194255.4:c.902_907delinsTGTGAA MANE Select	NP_919231.1:n.902_907delinsTGTGAA
NM_001205206.3:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.3:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_001352510.2:c.902_907delinsTGTGAA	NP_001339439.1:n.902_907delinsTGTGAA
NM_001352511.2:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA
NM_001352512.2:c.902_907delinsTGTGAA	NP_001339441.1:n.902_907delinsTGTGAA
NM_001205206.4:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001352511.3:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA

HGVS	Amino-acid Change
ENST00000311124.9:c.902_907delinsTGTGAA MANE Select	ENSP00000308895.4:n.902_907delinsTGTGAA
ENST00000650808.1:c.220_225delinsTGTGAA	ENSP00000498221.1:n.220_225delinsTGTGAA
ENST00000311124.8:c.902_907delinsTGTGAA	ENSP00000308895.4:n.902_907delinsTGTGAA
ENST00000380010.8:c.220_225delinsTGTGAA	ENSP00000369347.4:n.220_225delinsTGTGAA
ENST00000417954.5:c.497+11061_497+11066delinsTGTGAA
ENST00000460174.1:n.386+140_386+145delinsTGTGAA
ENST00000468508.1:n.238+140_238+145delinsTGTGAA
ENST00000567670.5:c.1293+11061_1293+11066delinsTGTGAA	ENSP00000457278.1:n.1293+11061_1293+11066delinsTGTGAA
NM_001205206.1:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.1:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_194255.2:c.902_907delinsTGTGAA	NP_919231.1:n.902_907delinsTGTGAA
XM_005261164.2:c.902_907delinsTGTGAA	XP_005261221.1:n.902_907delinsTGTGAA
XM_011529696.1:c.902_907delinsTGTGAA	XP_011527998.1:n.902_907delinsTGTGAA
XM_011529697.1:c.902_907delinsTGTGAA	XP_011527999.1:n.902_907delinsTGTGAA
XM_011529698.1:c.902_907delinsTGTGAA	XP_011528000.1:n.902_907delinsTGTGAA
XM_011529699.1:c.902_907delinsTGTGAA	XP_011528001.1:n.902_907delinsTGTGAA
XM_011529700.1:c.902_907delinsTGTGAA	XP_011528002.1:n.902_907delinsTGTGAA
XM_011529701.1:c.902_907delinsTGTGAA	XP_011528003.1:n.902_907delinsTGTGAA
XM_011529702.1:c.902_907delinsTGTGAA	XP_011528004.1:n.902_907delinsTGTGAA
XM_011529703.1:c.902_907delinsTGTGAA	XP_011528005.1:n.902_907delinsTGTGAA
XM_011529704.1:c.902_907delinsTGTGAA	XP_011528006.1:n.902_907delinsTGTGAA
XM_011529705.1:c.220_225delinsTGTGAA	XP_011528007.1:n.220_225delinsTGTGAA
XM_011529706.1:c.902_907delinsTGTGAA	XP_011528008.1:n.902_907delinsTGTGAA
XM_011529707.1:c.1584+11061_1584+11066delinsTGTGAA	XP_011528009.1:n.1584+11061_1584+11066delinsTGTGAA
XM_011529708.1:c.902_907delinsTGTGAA	XP_011528010.1:n.902_907delinsTGTGAA
XM_011529709.1:c.902_907delinsTGTGAA	XP_011528011.1:n.902_907delinsTGTGAA
XM_011529710.1:c.902_907delinsTGTGAA	XP_011528012.1:n.902_907delinsTGTGAA
NM_001205206.2:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.2:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_001352510.1:c.902_907delinsTGTGAA	NP_001339439.1:n.902_907delinsTGTGAA
NM_001352511.1:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA
NM_001352512.1:c.902_907delinsTGTGAA	NP_001339441.1:n.902_907delinsTGTGAA
NM_194255.3:c.902_907delinsTGTGAA	NP_919231.1:n.902_907delinsTGTGAA
XM_011529696.2:c.902_907delinsTGTGAA	XP_011527998.1:n.902_907delinsTGTGAA
XM_011529698.2:c.902_907delinsTGTGAA	XP_011528000.1:n.902_907delinsTGTGAA
XM_011529700.2:c.902_907delinsTGTGAA	XP_011528002.1:n.902_907delinsTGTGAA
XM_011529701.2:c.902_907delinsTGTGAA	XP_011528003.1:n.902_907delinsTGTGAA
XM_011529702.2:c.902_907delinsTGTGAA	XP_011528004.1:n.902_907delinsTGTGAA
XM_011529703.2:c.902_907delinsTGTGAA	XP_011528005.1:n.902_907delinsTGTGAA
XM_011529706.3:c.902_907delinsTGTGAA	XP_011528008.1:n.902_907delinsTGTGAA
XM_011529709.2:c.902_907delinsTGTGAA	XP_011528011.1:n.902_907delinsTGTGAA
XM_017028443.1:c.902_907delinsTGTGAA	XP_016883932.1:n.902_907delinsTGTGAA
XM_017028444.1:c.220_225delinsTGTGAA	XP_016883933.1:n.220_225delinsTGTGAA
XM_017028445.2:c.1584+11061_1584+11066delinsTGTGAA	XP_016883934.1:n.1584+11061_1584+11066delinsTGTGAA
NM_194255.4:c.902_907delinsTGTGAA MANE Select	NP_919231.1:n.902_907delinsTGTGAA
NM_001205206.3:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001205207.3:c.902_907delinsTGTGAA	NP_001192136.1:n.902_907delinsTGTGAA
NM_001352510.2:c.902_907delinsTGTGAA	NP_001339439.1:n.902_907delinsTGTGAA
NM_001352511.2:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA
NM_001352512.2:c.902_907delinsTGTGAA	NP_001339441.1:n.902_907delinsTGTGAA
NM_001205206.4:c.220_225delinsTGTGAA	NP_001192135.1:n.220_225delinsTGTGAA
NM_001352511.3:c.220_225delinsTGTGAA	NP_001339440.1:n.220_225delinsTGTGAA