Canonical Allele Identifier: CA2497318766
Gene: GAL HGNC NCBI

Linked Data

dbSNP Id: rs1945842136

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685411_68685457del , CM000673.2:g.68685411_68685457del GRCh38
NC_000011.9:g.68452879_68452925del , CM000673.1:g.68452879_68452925del GRCh37
NC_000011.8:g.68209455_68209501del NCBI36
NG_052785.1:g.5937_5983del

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.82-183_82-137del MANE Select ENSP00000265643.3:n.82-183_82-137del
ENST00000265643.3:c.82-183_82-137del ENSP00000265643.3:n.82-183_82-137del
NM_015973.3:c.82-183_82-137del NP_057057.2:n.82-183_82-137del
NM_015973.4:c.82-183_82-137del NP_057057.2:n.82-183_82-137del
XR_001748281.1:n.230+2389_230+2435del
NM_015973.5:c.82-183_82-137del MANE Select NP_057057.2:n.82-183_82-137del