Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465790_154465793delinsGCCT , CM000663.2:g.154465790_154465793delinsGCCT	GRCh38
NC_000001.10:g.154438266_154438269delinsGCCT , CM000663.1:g.154438266_154438269delinsGCCT	GRCh37
NC_000001.9:g.152704890_152704893delinsGCCT	NCBI36
NG_012087.1:g.65598_65601delinsGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.410_413delinsGCCT MANE Select	ENSP00000357470.3:n.410_413delinsGCCT
ENST00000344086.8:c.625_628delinsGCCT	ENSP00000340589.4:n.625_628delinsGCCT
ENST00000368485.7:c.410_413delinsGCCT	ENSP00000357470.3:n.410_413delinsGCCT
NM_000565.3:c.410_413delinsGCCT	NP_000556.1:n.410_413delinsGCCT
NM_181359.2:c.625_628delinsGCCT	NP_852004.1:n.625_628delinsGCCT
XM_005245139.1:c.498_501delinsGCCT	XP_005245196.1:n.498_501delinsGCCT
XM_005245140.1:c.658_661delinsGCCT	XP_005245197.1:n.658_661delinsGCCT
XM_006711298.1:c.410_413delinsGCCT	XP_006711361.1:n.410_413delinsGCCT
XM_005245139.2:c.498_501delinsGCCT	XP_005245196.1:n.498_501delinsGCCT
XM_005245140.3:c.658_661delinsGCCT	XP_005245197.1:n.658_661delinsGCCT
XM_006711298.2:c.410_413delinsGCCT	XP_006711361.1:n.410_413delinsGCCT
XM_017001199.2:c.410_413delinsGCCT	XP_016856688.1:n.410_413delinsGCCT
XM_017001200.2:c.410_413delinsGCCT	XP_016856689.1:n.410_413delinsGCCT
XM_017001201.2:c.658_661delinsGCCT	XP_016856690.1:n.658_661delinsGCCT
NM_000565.4:c.410_413delinsGCCT MANE Select	NP_000556.1:n.410_413delinsGCCT
NM_181359.3:c.625_628delinsGCCT	NP_852004.1:n.625_628delinsGCCT
NM_001382769.1:c.410_413delinsGCCT	NP_001369698.1:n.410_413delinsGCCT
NM_001382770.1:c.410_413delinsGCCT	NP_001369699.1:n.410_413delinsGCCT
NM_001382771.1:c.410_413delinsGCCT	NP_001369700.1:n.410_413delinsGCCT
NM_001382772.1:c.410_413delinsGCCT	NP_001369701.1:n.410_413delinsGCCT
NM_001382773.1:c.625_628delinsGCCT	NP_001369702.1:n.625_628delinsGCCT
NM_001382774.1:c.410_413delinsGCCT	NP_001369703.1:n.410_413delinsGCCT

HGVS	Amino-acid Change
ENST00000368485.8:c.410_413delinsGCCT MANE Select	ENSP00000357470.3:n.410_413delinsGCCT
ENST00000344086.8:c.625_628delinsGCCT	ENSP00000340589.4:n.625_628delinsGCCT
ENST00000368485.7:c.410_413delinsGCCT	ENSP00000357470.3:n.410_413delinsGCCT
NM_000565.3:c.410_413delinsGCCT	NP_000556.1:n.410_413delinsGCCT
NM_181359.2:c.625_628delinsGCCT	NP_852004.1:n.625_628delinsGCCT
XM_005245139.1:c.498_501delinsGCCT	XP_005245196.1:n.498_501delinsGCCT
XM_005245140.1:c.658_661delinsGCCT	XP_005245197.1:n.658_661delinsGCCT
XM_006711298.1:c.410_413delinsGCCT	XP_006711361.1:n.410_413delinsGCCT
XM_005245139.2:c.498_501delinsGCCT	XP_005245196.1:n.498_501delinsGCCT
XM_005245140.3:c.658_661delinsGCCT	XP_005245197.1:n.658_661delinsGCCT
XM_006711298.2:c.410_413delinsGCCT	XP_006711361.1:n.410_413delinsGCCT
XM_017001199.2:c.410_413delinsGCCT	XP_016856688.1:n.410_413delinsGCCT
XM_017001200.2:c.410_413delinsGCCT	XP_016856689.1:n.410_413delinsGCCT
XM_017001201.2:c.658_661delinsGCCT	XP_016856690.1:n.658_661delinsGCCT
NM_000565.4:c.410_413delinsGCCT MANE Select	NP_000556.1:n.410_413delinsGCCT
NM_181359.3:c.625_628delinsGCCT	NP_852004.1:n.625_628delinsGCCT
NM_001382769.1:c.410_413delinsGCCT	NP_001369698.1:n.410_413delinsGCCT
NM_001382770.1:c.410_413delinsGCCT	NP_001369699.1:n.410_413delinsGCCT
NM_001382771.1:c.410_413delinsGCCT	NP_001369700.1:n.410_413delinsGCCT
NM_001382772.1:c.410_413delinsGCCT	NP_001369701.1:n.410_413delinsGCCT
NM_001382773.1:c.625_628delinsGCCT	NP_001369702.1:n.625_628delinsGCCT
NM_001382774.1:c.410_413delinsGCCT	NP_001369703.1:n.410_413delinsGCCT