Canonical Allele Identifier: CA2153381854

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976604_87976608delinsCTTTT , CM000676.2:g.87976604_87976608delinsCTTTT	GRCh38
NC_000014.8:g.88442948_88442952delinsCTTTT , CM000676.1:g.88442948_88442952delinsCTTTT	GRCh37
NC_000014.7:g.87512701_87512705delinsCTTTT	NCBI36
NG_011853.2:g.21956_21960delinsAAAAG
NG_011853.3:g.21956_21960delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-120_622-116delinsAAAAG MANE Select	ENSP00000261304.2:n.622-120_622-116delinsAAAAG
ENST00000261304.6:c.622-120_622-116delinsAAAAG	ENSP00000261304.2:n.622-120_622-116delinsAAAAG
ENST00000393568.8:c.553-120_553-116delinsAAAAG	ENSP00000377198.4:n.553-120_553-116delinsAAAAG
ENST00000393569.6:c.544-120_544-116delinsAAAAG	ENSP00000377199.2:n.544-120_544-116delinsAAAAG
ENST00000474294.6:n.612-120_612-116delinsAAAAG
ENST00000477716.3:n.257_261delinsAAAAG
ENST00000544807.6:c.454-120_454-116delinsAAAAG	ENSP00000437513.2:n.454-120_454-116delinsAAAAG
ENST00000554916.5:n.501-120_501-116delinsAAAAG
ENST00000555000.5:c.-12-120_-12-116delinsAAAAG	ENSP00000450472.1:n.-12-120_-12-116delinsAAAAG
ENST00000557316.5:c.*20-120_*20-116delinsAAAAG	ENSP00000452314.1:n.*20-120_*20-116delinsAAAAG
ENST00000622264.4:c.612-120_612-116delinsAAAAG
NM_000153.3:c.622-120_622-116delinsAAAAG	NP_000144.2:n.622-120_622-116delinsAAAAG
NM_001201401.1:c.553-120_553-116delinsAAAAG	NP_001188330.1:n.553-120_553-116delinsAAAAG
NM_001201402.1:c.544-120_544-116delinsAAAAG	NP_001188331.1:n.544-120_544-116delinsAAAAG
XM_011536618.1:c.454-120_454-116delinsAAAAG	XP_011534920.1:n.454-120_454-116delinsAAAAG
XM_011536618.2:c.454-120_454-116delinsAAAAG	XP_011534920.1:n.454-120_454-116delinsAAAAG
NM_000153.4:c.622-120_622-116delinsAAAAG MANE Select	NP_000144.2:n.622-120_622-116delinsAAAAG
NM_001201401.2:c.553-120_553-116delinsAAAAG	NP_001188330.1:n.553-120_553-116delinsAAAAG
NM_001201402.2:c.544-120_544-116delinsAAAAG	NP_001188331.1:n.544-120_544-116delinsAAAAG