Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868768_81868809dup , CM000679.2:g.81868768_81868809dup	GRCh38
NC_000017.10:g.79826644_79826685dup , CM000679.1:g.79826644_79826685dup	GRCh37
NC_000017.9:g.77419933_77419974dup	NCBI36
NG_034210.1:g.7607_7648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.76_117dup MANE Select	ENSP00000269321.7:n.76_117dup
ENST00000269321.11:c.76_117dup	ENSP00000269321.7:n.76_117dup
ENST00000400721.8:c.76_117dup	ENSP00000383556.4:n.76_117dup
ENST00000541078.6:c.76_117dup	ENSP00000441348.2:n.76_117dup
ENST00000579121.5:c.502+189_503-175dup	ENSP00000462960.1:n.502+189_503-175dup
ENST00000580685.5:c.76_117dup	ENSP00000464205.1:n.76_117dup
ENST00000581876.5:c.76_117dup	ENSP00000461956.1:n.76_117dup
ENST00000583868.5:c.579_620dup	ENSP00000462209.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgP...
ENST00000584461.5:c.502+189_503-175dup	ENSP00000463939.1:n.502+189_503-175dup
NM_001185077.2:c.76_117dup	NP_001172006.1:n.76_117dup
NM_001185078.2:c.76_117dup	NP_001172007.1:n.76_117dup
NM_001301240.1:c.502+189_503-175dup	NP_001288169.1:n.502+189_503-175dup
NM_001301241.1:c.502+189_503-175dup	NP_001288170.1:n.502+189_503-175dup
NM_001301242.1:c.579_620dup	NP_001288171.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgProS...
NM_001301243.1:c.76_117dup	NP_001288172.1:n.76_117dup
NM_004309.5:c.76_117dup	NP_004300.1:n.76_117dup
NR_125441.1:n.750_791dup
XM_011523574.1:c.76_117dup	XP_011521876.1:n.76_117dup
NM_004309.6:c.76_117dup MANE Select	NP_004300.1:n.76_117dup
NM_001185077.3:c.76_117dup	NP_001172006.1:n.76_117dup
NM_001185078.3:c.76_117dup	NP_001172007.1:n.76_117dup
NM_001301240.2:c.502+189_503-175dup	NP_001288169.1:n.502+189_503-175dup
NM_001301241.2:c.502+189_503-175dup	NP_001288170.1:n.502+189_503-175dup
NM_001301242.2:c.579_620dup	NP_001288171.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgProS...
NM_001301243.2:c.76_117dup	NP_001288172.1:n.76_117dup
NR_125441.2:n.681_722dup

HGVS	Amino-acid Change
ENST00000269321.12:c.76_117dup MANE Select	ENSP00000269321.7:n.76_117dup
ENST00000269321.11:c.76_117dup	ENSP00000269321.7:n.76_117dup
ENST00000400721.8:c.76_117dup	ENSP00000383556.4:n.76_117dup
ENST00000541078.6:c.76_117dup	ENSP00000441348.2:n.76_117dup
ENST00000579121.5:c.502+189_503-175dup	ENSP00000462960.1:n.502+189_503-175dup
ENST00000580685.5:c.76_117dup	ENSP00000464205.1:n.76_117dup
ENST00000581876.5:c.76_117dup	ENSP00000461956.1:n.76_117dup
ENST00000583868.5:c.579_620dup	ENSP00000462209.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgP...
ENST00000584461.5:c.502+189_503-175dup	ENSP00000463939.1:n.502+189_503-175dup
NM_001185077.2:c.76_117dup	NP_001172006.1:n.76_117dup
NM_001185078.2:c.76_117dup	NP_001172007.1:n.76_117dup
NM_001301240.1:c.502+189_503-175dup	NP_001288169.1:n.502+189_503-175dup
NM_001301241.1:c.502+189_503-175dup	NP_001288170.1:n.502+189_503-175dup
NM_001301242.1:c.579_620dup	NP_001288171.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgProS...
NM_001301243.1:c.76_117dup	NP_001288172.1:n.76_117dup
NM_004309.5:c.76_117dup	NP_004300.1:n.76_117dup
NR_125441.1:n.750_791dup
XM_011523574.1:c.76_117dup	XP_011521876.1:n.76_117dup
NM_004309.6:c.76_117dup MANE Select	NP_004300.1:n.76_117dup
NM_001185077.3:c.76_117dup	NP_001172006.1:n.76_117dup
NM_001185078.3:c.76_117dup	NP_001172007.1:n.76_117dup
NM_001301240.2:c.502+189_503-175dup	NP_001288169.1:n.502+189_503-175dup
NM_001301241.2:c.502+189_503-175dup	NP_001288170.1:n.502+189_503-175dup
NM_001301242.2:c.579_620dup	NP_001288171.1:p.Pro207_Pro208insSerProTyrGlnSerAlaAspArgProS...
NM_001301243.2:c.76_117dup	NP_001288172.1:n.76_117dup
NR_125441.2:n.681_722dup