Canonical Allele Identifier: CA2153381856

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976604_87976609delinsCTTTTG , CM000676.2:g.87976604_87976609delinsCTTTTG	GRCh38
NC_000014.8:g.88442948_88442953delinsCTTTTG , CM000676.1:g.88442948_88442953delinsCTTTTG	GRCh37
NC_000014.7:g.87512701_87512706delinsCTTTTG	NCBI36
NG_011853.2:g.21955_21960delinsCAAAAG
NG_011853.3:g.21955_21960delinsCAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-121_622-116delinsCAAAAG MANE Select	ENSP00000261304.2:n.622-121_622-116delinsCAAAAG
ENST00000261304.6:c.622-121_622-116delinsCAAAAG	ENSP00000261304.2:n.622-121_622-116delinsCAAAAG
ENST00000393568.8:c.553-121_553-116delinsCAAAAG	ENSP00000377198.4:n.553-121_553-116delinsCAAAAG
ENST00000393569.6:c.544-121_544-116delinsCAAAAG	ENSP00000377199.2:n.544-121_544-116delinsCAAAAG
ENST00000474294.6:n.612-121_612-116delinsCAAAAG
ENST00000477716.3:n.256_261delinsCAAAAG
ENST00000544807.6:c.454-121_454-116delinsCAAAAG	ENSP00000437513.2:n.454-121_454-116delinsCAAAAG
ENST00000554916.5:n.501-121_501-116delinsCAAAAG
ENST00000555000.5:c.-12-121_-12-116delinsCAAAAG	ENSP00000450472.1:n.-12-121_-12-116delinsCAAAAG
ENST00000557316.5:c.*20-121_*20-116delinsCAAAAG	ENSP00000452314.1:n.*20-121_*20-116delinsCAAAAG
ENST00000622264.4:c.612-121_612-116delinsCAAAAG
NM_000153.3:c.622-121_622-116delinsCAAAAG	NP_000144.2:n.622-121_622-116delinsCAAAAG
NM_001201401.1:c.553-121_553-116delinsCAAAAG	NP_001188330.1:n.553-121_553-116delinsCAAAAG
NM_001201402.1:c.544-121_544-116delinsCAAAAG	NP_001188331.1:n.544-121_544-116delinsCAAAAG
XM_011536618.1:c.454-121_454-116delinsCAAAAG	XP_011534920.1:n.454-121_454-116delinsCAAAAG
XM_011536618.2:c.454-121_454-116delinsCAAAAG	XP_011534920.1:n.454-121_454-116delinsCAAAAG
NM_000153.4:c.622-121_622-116delinsCAAAAG MANE Select	NP_000144.2:n.622-121_622-116delinsCAAAAG
NM_001201401.2:c.553-121_553-116delinsCAAAAG	NP_001188330.1:n.553-121_553-116delinsCAAAAG
NM_001201402.2:c.544-121_544-116delinsCAAAAG	NP_001188331.1:n.544-121_544-116delinsCAAAAG