Canonical Allele Identifier: CA2802493102
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988530_87988531insC , CM000676.2:g.87988530_87988531insC GRCh38
NC_000014.8:g.88454874_88454875insC , CM000676.1:g.88454874_88454875insC GRCh37
NC_000014.7:g.87524627_87524628insC NCBI36
NG_011853.2:g.10033_10034insG
NG_011853.3:g.10033_10034insG

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.196-8_196-7insG MANE Select ENSP00000261304.2:n.196-8_196-7insG
ENST00000261304.6:c.196-8_196-7insG ENSP00000261304.2:n.196-8_196-7insG
ENST00000393568.8:c.196-324_196-323insG ENSP00000377198.4:n.196-324_196-323insG
ENST00000393569.6:c.118-8_118-7insG ENSP00000377199.2:n.118-8_118-7insG
ENST00000474294.6:n.186-8_186-7insG
ENST00000544807.6:c.28-8_28-7insG ENSP00000437513.2:n.28-8_28-7insG
ENST00000554372.5:c.196-8_196-7insG ENSP00000451884.1:n.196-8_196-7insG
ENST00000554916.5:n.75-8_75-7insG
ENST00000556879.5:c.256-8_256-7insG ENSP00000452208.1:n.256-8_256-7insG
ENST00000557316.5:c.196-8_196-7insG ENSP00000452314.1:n.196-8_196-7insG
ENST00000622264.4:c.186-8_186-7insG
NM_000153.3:c.196-8_196-7insG NP_000144.2:n.196-8_196-7insG
NM_001201401.1:c.196-324_196-323insG NP_001188330.1:n.196-324_196-323insG
NM_001201402.1:c.118-8_118-7insG NP_001188331.1:n.118-8_118-7insG
XM_011536618.1:c.28-8_28-7insG XP_011534920.1:n.28-8_28-7insG
XM_011536618.2:c.28-8_28-7insG XP_011534920.1:n.28-8_28-7insG
NM_000153.4:c.196-8_196-7insG MANE Select NP_000144.2:n.196-8_196-7insG
NM_001201401.2:c.196-324_196-323insG NP_001188330.1:n.196-324_196-323insG
NM_001201402.2:c.118-8_118-7insG NP_001188331.1:n.118-8_118-7insG