Canonical Allele Identifier: CA2625960347

Gene: GALC

Linked Data

• gnomAD v4: 14-87976563-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976563_87976564insCTT , CM000676.2:g.87976563_87976564insCTT	GRCh38
NC_000014.8:g.88442907_88442908insCTT , CM000676.1:g.88442907_88442908insCTT	GRCh37
NC_000014.7:g.87512660_87512661insCTT	NCBI36
NG_011853.2:g.22000_22001insAAG
NG_011853.3:g.22000_22001insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-76_622-75insAAG MANE Select	ENSP00000261304.2:n.622-76_622-75insAAG
ENST00000261304.6:c.622-76_622-75insAAG	ENSP00000261304.2:n.622-76_622-75insAAG
ENST00000393568.8:c.553-76_553-75insAAG	ENSP00000377198.4:n.553-76_553-75insAAG
ENST00000393569.6:c.544-76_544-75insAAG	ENSP00000377199.2:n.544-76_544-75insAAG
ENST00000474294.6:n.612-76_612-75insAAG
ENST00000477716.3:n.301_302insAAG
ENST00000544807.6:c.454-76_454-75insAAG	ENSP00000437513.2:n.454-76_454-75insAAG
ENST00000554916.5:n.501-76_501-75insAAG
ENST00000555000.5:c.-12-76_-12-75insAAG	ENSP00000450472.1:n.-12-76_-12-75insAAG
ENST00000557316.5:c.*20-76_*20-75insAAG	ENSP00000452314.1:n.*20-76_*20-75insAAG
ENST00000622264.4:c.612-76_612-75insAAG
NM_000153.3:c.622-76_622-75insAAG	NP_000144.2:n.622-76_622-75insAAG
NM_001201401.1:c.553-76_553-75insAAG	NP_001188330.1:n.553-76_553-75insAAG
NM_001201402.1:c.544-76_544-75insAAG	NP_001188331.1:n.544-76_544-75insAAG
XM_011536618.1:c.454-76_454-75insAAG	XP_011534920.1:n.454-76_454-75insAAG
XM_011536618.2:c.454-76_454-75insAAG	XP_011534920.1:n.454-76_454-75insAAG
NM_000153.4:c.622-76_622-75insAAG MANE Select	NP_000144.2:n.622-76_622-75insAAG
NM_001201401.2:c.553-76_553-75insAAG	NP_001188330.1:n.553-76_553-75insAAG
NM_001201402.2:c.544-76_544-75insAAG	NP_001188331.1:n.544-76_544-75insAAG