Canonical Allele Identifier: CA2642312230

Gene: GALR1

Linked Data

• gnomAD v4: 18-77268567-C-CCTCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.77268570_77268571insCTTCTC , CM000680.2:g.77268570_77268571insCTTCTC	GRCh38
NC_000018.9:g.74980526_74980527insCTTCTC , CM000680.1:g.74980526_74980527insCTTCTC	GRCh37
NC_000018.8:g.73109514_73109515insCTTCTC	NCBI36
NG_009223.1:g.23519_23520insCTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299727.5:c.733-15_733-14insCTTCTC MANE Select	ENSP00000299727.3:n.733-15_733-14insCTTCTC
ENST00000299727.4:c.733-15_733-14insCTTCTC	ENSP00000299727.3:n.733-15_733-14insCTTCTC
NM_001480.3:c.733-15_733-14insCTTCTC	NP_001471.2:n.733-15_733-14insCTTCTC
NM_001480.4:c.733-15_733-14insCTTCTC MANE Select	NP_001471.2:n.733-15_733-14insCTTCTC