Canonical Allele Identifier: CA709649485

Gene: GALC

Linked Data

• dbSNP Id: rs1360765137
• gnomAD v3: 14-87945333-TATTA-T
• gnomAD v4: 14-87945333-TATTA-T
• MyVariant Identifiers: chr14:g.88411678_88411681del (hg19) ; chr14:g.87945334_87945337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945335_87945338del , CM000676.2:g.87945335_87945338del	GRCh38
NC_000014.8:g.88411679_88411682del , CM000676.1:g.88411679_88411682del	GRCh37
NC_000014.7:g.87481432_87481435del	NCBI36
NG_011853.2:g.53227_53230del
NG_011853.3:g.53227_53230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1670+216_1670+219del MANE Select	ENSP00000261304.2:n.1670+216_1670+219del
ENST00000261304.6:c.1670+216_1670+219del	ENSP00000261304.2:n.1670+216_1670+219del
ENST00000393568.8:c.1601+216_1601+219del	ENSP00000377198.4:n.1601+216_1601+219del
ENST00000393569.6:c.1592+216_1592+219del	ENSP00000377199.2:n.1592+216_1592+219del
ENST00000544807.6:c.1502+216_1502+219del	ENSP00000437513.2:n.1502+216_1502+219del
ENST00000555000.5:c.1037+216_1037+219del	ENSP00000450472.1:n.1037+216_1037+219del
ENST00000555179.1:c.206+2391_206+2394del
ENST00000557316.5:c.*1068+216_*1068+219del	ENSP00000452314.1:n.*1068+216_*1068+219del
NM_000153.3:c.1670+216_1670+219del	NP_000144.2:n.1670+216_1670+219del
NM_001201401.1:c.1601+216_1601+219del	NP_001188330.1:n.1601+216_1601+219del
NM_001201402.1:c.1592+216_1592+219del	NP_001188331.1:n.1592+216_1592+219del
XM_011536618.1:c.1502+216_1502+219del	XP_011534920.1:n.1502+216_1502+219del
XM_011536618.2:c.1502+216_1502+219del	XP_011534920.1:n.1502+216_1502+219del
NM_000153.4:c.1670+216_1670+219del MANE Select	NP_000144.2:n.1670+216_1670+219del
NM_001201401.2:c.1601+216_1601+219del	NP_001188330.1:n.1601+216_1601+219del
NM_001201402.2:c.1592+216_1592+219del	NP_001188331.1:n.1592+216_1592+219del