Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596565_109596566del , CM000674.2:g.109596565_109596566del	GRCh38
NC_000012.11:g.110034370_110034371del , CM000674.1:g.110034370_110034371del	GRCh37
NC_000012.10:g.108518753_108518754del	NCBI36
NG_007702.1:g.27871_27872del , LRG_156:g.27871_27872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.336_337del	ENSP00000439134.1:p.Asp113TrpfsTer?
ENST00000546277.6:c.1179_1180del	ENSP00000438153.2:p.Asp394TrpfsTer?
ENST00000636529.2:n.818_819del
ENST00000697195.1:c.943_944del	ENSP00000513181.1:n.943_944del
ENST00000697196.1:c.352_353del	ENSP00000513182.1:n.352_353del
ENST00000697197.1:n.3208_3209del
ENST00000697198.1:n.1563_1564del
ENST00000228510.8:c.1179_1180del MANE Select	ENSP00000228510.3:p.Asp394TrpfsTer?
ENST00000636529.1:c.804_805del
ENST00000636996.1:c.1027_1028del
ENST00000228510.7:c.1179_1180del	ENSP00000228510.3:p.Asp394TrpfsTer?
ENST00000392727.7:c.1023_1024del	ENSP00000376487.3:p.Asp342TrpfsTer?
ENST00000447878.6:c.626_627del	ENSP00000415555.2:n.626_627del
ENST00000537237.5:c.852_853del	ENSP00000445382.1:n.852_853del
ENST00000539575.4:c.1179_1180del	ENSP00000443551.2:p.Asp394TrpfsTer?
ENST00000539696.5:c.336_337del	ENSP00000439134.1:p.Asp113TrpfsTer?
ENST00000540353.1:n.3412_3413del
ENST00000625889.2:c.1023_1024del	ENSP00000486846.1:p.Asp342TrpfsTer?
ENST00000629016.2:c.626_627del	ENSP00000486804.1:n.626_627del
NM_000431.3:c.1179_1180del	NP_000422.1:p.Asp394TrpfsTer?
NM_001114185.2:c.1179_1180del	NP_001107657.1:p.Asp394TrpfsTer?
NM_001301182.1:c.1023_1024del	NP_001288111.1:p.Asp342TrpfsTer?
XM_011538372.1:c.1179_1180del	XP_011536674.1:p.Asp394TrpfsTer?
XM_017019313.2:c.1023_1024del	XP_016874802.1:p.Asp342TrpfsTer?
XM_017019314.1:c.1179_1180del	XP_016874803.1:p.Asp394TrpfsTer?
NM_000431.4:c.1179_1180del MANE Select	NP_000422.1:p.Asp394TrpfsTer?
NM_001114185.3:c.1179_1180del	NP_001107657.1:p.Asp394TrpfsTer?
NM_001301182.2:c.1023_1024del	NP_001288111.1:p.Asp342TrpfsTer?