Canonical Allele Identifier: CA615276330

Gene: GALC

Linked Data

• dbSNP Id: rs1437302306
• gnomAD v2: 14-88442827-T-TTTTA
• MyVariant Identifiers: chr14:g.88442827_88442828insTTTA (hg19) ; chr14:g.87976483_87976484insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976483_87976484insTTTA , CM000676.2:g.87976483_87976484insTTTA	GRCh38
NC_000014.8:g.88442827_88442828insTTTA , CM000676.1:g.88442827_88442828insTTTA	GRCh37
NC_000014.7:g.87512580_87512581insTTTA	NCBI36
NG_011853.2:g.22080_22081insTAAA
NG_011853.3:g.22080_22081insTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.626_627insTAAA MANE Select	ENSP00000261304.2:p.Leu209PhefsTer20
ENST00000261304.6:c.626_627insTAAA	ENSP00000261304.2:p.Leu209PhefsTer20
ENST00000393568.8:c.557_558insTAAA	ENSP00000377198.4:p.Leu186PhefsTer20
ENST00000393569.6:c.548_549insTAAA	ENSP00000377199.2:p.Leu183PhefsTer20
ENST00000474294.6:n.616_617insTAAA
ENST00000477716.3:n.381_382insTAAA
ENST00000544807.6:c.458_459insTAAA	ENSP00000437513.2:p.Leu153PhefsTer20
ENST00000554916.5:n.505_506insTAAA
ENST00000555000.5:c.-8_-7insTAAA	ENSP00000450472.1:n.-8_-7insTAAA
ENST00000557316.5:c.*24_*25insTAAA	ENSP00000452314.1:n.*24_*25insTAAA
ENST00000622264.4:c.616_617insTAAA
NM_000153.3:c.626_627insTAAA	NP_000144.2:p.Leu209PhefsTer20
NM_001201401.1:c.557_558insTAAA	NP_001188330.1:p.Leu186PhefsTer20
NM_001201402.1:c.548_549insTAAA	NP_001188331.1:p.Leu183PhefsTer20
XM_011536618.1:c.458_459insTAAA	XP_011534920.1:p.Leu153PhefsTer20
XM_011536618.2:c.458_459insTAAA	XP_011534920.1:p.Leu153PhefsTer20
NM_000153.4:c.626_627insTAAA MANE Select	NP_000144.2:p.Leu209PhefsTer20
NM_001201401.2:c.557_558insTAAA	NP_001188330.1:p.Leu186PhefsTer20
NM_001201402.2:c.548_549insTAAA	NP_001188331.1:p.Leu183PhefsTer20