Canonical Allele Identifier: CA2323504026

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657879_12657880delinsCG , CM000681.2:g.12657879_12657880delinsCG	GRCh38
NC_000019.9:g.12768693_12768694delinsCG , CM000681.1:g.12768693_12768694delinsCG	GRCh37
NC_000019.8:g.12629693_12629694delinsCG	NCBI36
NG_008318.1:g.13898_13899delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+183_1309+184delinsCG MANE Select	ENSP00000395473.2:n.1309+183_1309+184delinsCG
ENST00000221363.8:c.1306+183_1306+184delinsCG	ENSP00000221363.4:n.1306+183_1306+184delinsCG
ENST00000456935.6:c.1309+183_1309+184delinsCG	ENSP00000395473.2:n.1309+183_1309+184delinsCG
ENST00000465830.1:n.473+183_473+184delinsCG
ENST00000466794.5:n.1208+183_1208+184delinsCG
ENST00000495617.1:n.281-120_281-119delinsCG
NM_000528.3:c.1309+183_1309+184delinsCG	NP_000519.2:n.1309+183_1309+184delinsCG
NM_001173498.1:c.1306+183_1306+184delinsCG	NP_001166969.1:n.1306+183_1306+184delinsCG
XM_005259913.1:c.1312+183_1312+184delinsCG	XP_005259970.1:n.1312+183_1312+184delinsCG
XM_011528017.1:c.208+183_208+184delinsCG	XP_011526319.1:n.208+183_208+184delinsCG
XM_005259913.2:c.1312+183_1312+184delinsCG	XP_005259970.1:n.1312+183_1312+184delinsCG
XM_024451518.1:c.208+183_208+184delinsCG	XP_024307286.1:n.208+183_208+184delinsCG
NM_000528.4:c.1309+183_1309+184delinsCG MANE Select	NP_000519.2:n.1309+183_1309+184delinsCG
NM_001173498.2:c.1306+183_1306+184delinsCG	NP_001166969.1:n.1306+183_1306+184delinsCG