Canonical Allele Identifier: CA2153381852

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976600_87976603delinsGCTT , CM000676.2:g.87976600_87976603delinsGCTT	GRCh38
NC_000014.8:g.88442944_88442947delinsGCTT , CM000676.1:g.88442944_88442947delinsGCTT	GRCh37
NC_000014.7:g.87512697_87512700delinsGCTT	NCBI36
NG_011853.2:g.21961_21964delinsAAGC
NG_011853.3:g.21961_21964delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-115_622-112delinsAAGC MANE Select	ENSP00000261304.2:n.622-115_622-112delinsAAGC
ENST00000261304.6:c.622-115_622-112delinsAAGC	ENSP00000261304.2:n.622-115_622-112delinsAAGC
ENST00000393568.8:c.553-115_553-112delinsAAGC	ENSP00000377198.4:n.553-115_553-112delinsAAGC
ENST00000393569.6:c.544-115_544-112delinsAAGC	ENSP00000377199.2:n.544-115_544-112delinsAAGC
ENST00000474294.6:n.612-115_612-112delinsAAGC
ENST00000477716.3:n.262_265delinsAAGC
ENST00000544807.6:c.454-115_454-112delinsAAGC	ENSP00000437513.2:n.454-115_454-112delinsAAGC
ENST00000554916.5:n.501-115_501-112delinsAAGC
ENST00000555000.5:c.-12-115_-12-112delinsAAGC	ENSP00000450472.1:n.-12-115_-12-112delinsAAGC
ENST00000557316.5:c.*20-115_*20-112delinsAAGC	ENSP00000452314.1:n.*20-115_*20-112delinsAAGC
ENST00000622264.4:c.612-115_612-112delinsAAGC
NM_000153.3:c.622-115_622-112delinsAAGC	NP_000144.2:n.622-115_622-112delinsAAGC
NM_001201401.1:c.553-115_553-112delinsAAGC	NP_001188330.1:n.553-115_553-112delinsAAGC
NM_001201402.1:c.544-115_544-112delinsAAGC	NP_001188331.1:n.544-115_544-112delinsAAGC
XM_011536618.1:c.454-115_454-112delinsAAGC	XP_011534920.1:n.454-115_454-112delinsAAGC
XM_011536618.2:c.454-115_454-112delinsAAGC	XP_011534920.1:n.454-115_454-112delinsAAGC
NM_000153.4:c.622-115_622-112delinsAAGC MANE Select	NP_000144.2:n.622-115_622-112delinsAAGC
NM_001201401.2:c.553-115_553-112delinsAAGC	NP_001188330.1:n.553-115_553-112delinsAAGC
NM_001201402.2:c.544-115_544-112delinsAAGC	NP_001188331.1:n.544-115_544-112delinsAAGC