Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.25209787_25209792delinsAATTGT , CM000674.2:g.25209787_25209792delinsAATTGT	GRCh38
NC_000012.11:g.25362721_25362726delinsAATTGT , CM000674.1:g.25362721_25362726delinsAATTGT	GRCh37
NC_000012.10:g.25253988_25253993delinsAATTGT	NCBI36
NG_007524.1:g.46129_46134delinsACAATT
NG_007524.2:g.46212_46217delinsACAATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000557334.6:c.3_8delinsACAATT	ENSP00000452512.1:n.3_8delinsACAATT
ENST00000685328.1:c.3_8delinsACAATT	ENSP00000508921.1:n.3_8delinsACAATT
ENST00000686877.1:c.541_546delinsACAATT	ENSP00000510431.1:n.541_546delinsACAATT
ENST00000687356.1:c.268_273delinsACAATT	ENSP00000510511.1:n.268_273delinsACAATT
ENST00000688228.1:n.1044_1049delinsACAATT
ENST00000688940.1:c.3_8delinsACAATT	ENSP00000509238.1:n.3_8delinsACAATT
ENST00000690406.1:c.373_378delinsACAATT
ENST00000690804.1:c.531_536delinsACAATT	ENSP00000508568.1:n.531_536delinsACAATT
ENST00000692768.1:c.3_8delinsACAATT	ENSP00000510254.1:n.3_8delinsACAATT
ENST00000693229.1:c.3_8delinsACAATT	ENSP00000509223.1:n.3_8delinsACAATT
ENST00000256078.10:c.124_129delinsACAATT MANE Plus Clinical	ENSP00000256078.5:n.124_129delinsACAATT
ENST00000311936.8:c.3_8delinsACAATT MANE Select	ENSP00000308495.3:n.3_8delinsACAATT
ENST00000256078.8:c.124_129delinsACAATT	ENSP00000256078.4:n.124_129delinsACAATT
ENST00000311936.7:c.3_8delinsACAATT	ENSP00000308495.3:n.3_8delinsACAATT
ENST00000557334.5:c.3_8delinsACAATT	ENSP00000452512.1:n.3_8delinsACAATT
NM_004985.4:c.3_8delinsACAATT	NP_004976.2:n.3_8delinsACAATT
NM_033360.3:c.124_129delinsACAATT	NP_203524.1:n.124_129delinsACAATT
XM_011520653.1:c.3_8delinsACAATT	XP_011518955.1:n.3_8delinsACAATT
XM_011520653.3:c.3_8delinsACAATT	XP_011518955.1:n.3_8delinsACAATT
NM_001369786.1:c.124_129delinsACAATT	NP_001356715.1:n.124_129delinsACAATT
NM_001369787.1:c.3_8delinsACAATT	NP_001356716.1:n.3_8delinsACAATT
NM_004985.5:c.3_8delinsACAATT MANE Select	NP_004976.2:n.3_8delinsACAATT
NM_033360.4:c.124_129delinsACAATT MANE Plus Clinical	NP_203524.1:n.124_129delinsACAATT

HGVS	Amino-acid change
ENST00000557334.6:c.3_8delinsACAATT	ENSP00000452512.1:n.3_8delinsACAATT
ENST00000685328.1:c.3_8delinsACAATT	ENSP00000508921.1:n.3_8delinsACAATT
ENST00000686877.1:c.541_546delinsACAATT	ENSP00000510431.1:n.541_546delinsACAATT
ENST00000687356.1:c.268_273delinsACAATT	ENSP00000510511.1:n.268_273delinsACAATT
ENST00000688228.1:n.1044_1049delinsACAATT
ENST00000688940.1:c.3_8delinsACAATT	ENSP00000509238.1:n.3_8delinsACAATT
ENST00000690406.1:c.373_378delinsACAATT
ENST00000690804.1:c.531_536delinsACAATT	ENSP00000508568.1:n.531_536delinsACAATT
ENST00000692768.1:c.3_8delinsACAATT	ENSP00000510254.1:n.3_8delinsACAATT
ENST00000693229.1:c.3_8delinsACAATT	ENSP00000509223.1:n.3_8delinsACAATT
ENST00000256078.10:c.124_129delinsACAATT MANE Plus Clinical	ENSP00000256078.5:n.124_129delinsACAATT
ENST00000311936.8:c.3_8delinsACAATT MANE Select	ENSP00000308495.3:n.3_8delinsACAATT
ENST00000256078.8:c.124_129delinsACAATT	ENSP00000256078.4:n.124_129delinsACAATT
ENST00000311936.7:c.3_8delinsACAATT	ENSP00000308495.3:n.3_8delinsACAATT
ENST00000557334.5:c.3_8delinsACAATT	ENSP00000452512.1:n.3_8delinsACAATT
NM_004985.4:c.3_8delinsACAATT	NP_004976.2:n.3_8delinsACAATT
NM_033360.3:c.124_129delinsACAATT	NP_203524.1:n.124_129delinsACAATT
XM_011520653.1:c.3_8delinsACAATT	XP_011518955.1:n.3_8delinsACAATT
XM_011520653.3:c.3_8delinsACAATT	XP_011518955.1:n.3_8delinsACAATT
NM_001369786.1:c.124_129delinsACAATT	NP_001356715.1:n.124_129delinsACAATT
NM_001369787.1:c.3_8delinsACAATT	NP_001356716.1:n.3_8delinsACAATT
NM_004985.5:c.3_8delinsACAATT MANE Select	NP_004976.2:n.3_8delinsACAATT
NM_033360.4:c.124_129delinsACAATT MANE Plus Clinical	NP_203524.1:n.124_129delinsACAATT