Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45421599_45421600delinsAG , CM000668.2:g.45421599_45421600delinsAG	GRCh38
NC_000006.11:g.45389336_45389337delinsAG , CM000668.1:g.45389336_45389337delinsAG	GRCh37
NC_000006.10:g.45497314_45497315delinsAG	NCBI36
NG_008020.1:g.98283_98284delinsAG
NG_008020.2:g.98283_98284delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647337.2:c.59-994_59-993delinsAG MANE Select	ENSP00000495497.1:n.59-994_59-993delinsAG
ENST00000371432.7:c.59-994_59-993delinsAG	ENSP00000360486.4:n.59-994_59-993delinsAG
ENST00000371436.10:c.59-994_59-993delinsAG	ENSP00000360491.6:n.59-994_59-993delinsAG
ENST00000371438.5:c.59-994_59-993delinsAG	ENSP00000360493.1:n.59-994_59-993delinsAG
ENST00000465038.6:c.59-994_59-993delinsAG	ENSP00000420707.2:n.59-994_59-993delinsAG
ENST00000483377.5:c.59-10264_59-10263delinsAG	ENSP00000461357.1:n.59-10264_59-10263delinsAG
ENST00000576263.5:c.59-994_59-993delinsAG	ENSP00000458178.1:n.59-994_59-993delinsAG
NM_001015051.3:c.59-994_59-993delinsAG	NP_001015051.3:n.59-994_59-993delinsAG
NM_001024630.3:c.59-994_59-993delinsAG	NP_001019801.3:n.59-994_59-993delinsAG
XM_011514960.1:c.263-994_263-993delinsAG	XP_011513262.1:n.263-994_263-993delinsAG
XM_011514961.1:c.263-994_263-993delinsAG	XP_011513263.1:n.263-994_263-993delinsAG
XM_011514962.1:c.263-994_263-993delinsAG	XP_011513264.1:n.263-994_263-993delinsAG
XM_011514963.1:c.263-994_263-993delinsAG	XP_011513265.1:n.263-994_263-993delinsAG
XM_011514964.1:c.263-994_263-993delinsAG	XP_011513266.1:n.263-994_263-993delinsAG
XM_011514965.1:c.263-994_263-993delinsAG	XP_011513267.1:n.263-994_263-993delinsAG
XM_011514967.1:c.263-994_263-993delinsAG	XP_011513269.1:n.263-994_263-993delinsAG
XM_011514968.1:c.263-994_263-993delinsAG	XP_011513270.1:n.263-994_263-993delinsAG
XR_926323.1:n.775-994_775-993delinsAG
NM_001024630.4:c.59-994_59-993delinsAG MANE Select	NP_001019801.3:n.59-994_59-993delinsAG
NM_001015051.4:c.59-994_59-993delinsAG	NP_001015051.3:n.59-994_59-993delinsAG