Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592744_156592745delinsAG , CM000663.2:g.156592744_156592745delinsAG	GRCh38
NC_000001.10:g.156562536_156562537delinsAG , CM000663.1:g.156562536_156562537delinsAG	GRCh37
NC_000001.9:g.154829160_154829161delinsAG	NCBI36
NG_052542.1:g.5979_5980delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.516+74_516+75delinsAG MANE Select	ENSP00000357218.3:n.516+74_516+75delinsAG
ENST00000467374.2:n.700_701delinsAG
ENST00000679369.1:c.405+74_405+75delinsAG	ENSP00000505883.1:n.405+74_405+75delinsAG
ENST00000679649.1:n.555+74_555+75delinsAG
ENST00000679702.1:c.516+74_516+75delinsAG	ENSP00000505913.1:n.516+74_516+75delinsAG
ENST00000679913.1:n.720+74_720+75delinsAG
ENST00000680004.1:c.516+74_516+75delinsAG	ENSP00000506275.1:n.516+74_516+75delinsAG
ENST00000680087.1:c.516+74_516+75delinsAG	ENSP00000505907.1:n.516+74_516+75delinsAG
ENST00000680269.1:c.516+74_516+75delinsAG	ENSP00000505899.1:n.516+74_516+75delinsAG
ENST00000680529.1:n.700+74_700+75delinsAG
ENST00000680661.1:c.516+74_516+75delinsAG	ENSP00000505088.1:n.516+74_516+75delinsAG
ENST00000681054.1:c.516+74_516+75delinsAG	ENSP00000506192.1:n.516+74_516+75delinsAG
ENST00000681523.1:c.516+74_516+75delinsAG	ENSP00000505349.1:n.516+74_516+75delinsAG
ENST00000681645.1:n.555+74_555+75delinsAG
ENST00000681734.1:c.516+74_516+75delinsAG	ENSP00000506177.1:n.516+74_516+75delinsAG
ENST00000681825.1:n.394_395delinsAG
ENST00000681922.1:n.629_630delinsAG
ENST00000368233.3:c.516+74_516+75delinsAG	ENSP00000357216.3:n.516+74_516+75delinsAG
ENST00000368234.7:c.516+74_516+75delinsAG	ENSP00000357217.3:n.516+74_516+75delinsAG
ENST00000368235.7:c.516+74_516+75delinsAG	ENSP00000357218.3:n.516+74_516+75delinsAG
ENST00000467374.1:n.499_500delinsAG
NM_144772.2:c.516+74_516+75delinsAG	NP_658985.2:n.516+74_516+75delinsAG
XM_017000319.2:c.516+74_516+75delinsAG	XP_016855808.1:n.516+74_516+75delinsAG
NM_144772.3:c.516+74_516+75delinsAG MANE Select	NP_658985.2:n.516+74_516+75delinsAG