Canonical Allele Identifier: CA2576639059
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 2966396
ClinVar RCV Id: RCV003821010

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891819dup , CM000681.2:g.12891819dup GRCh38
NC_000019.9:g.13002633dup , CM000681.1:g.13002633dup GRCh37
NC_000019.8:g.12863633dup NCBI36
NG_009292.1:g.5660dup
NG_013087.1:g.386dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.128-12dup MANE Select ENSP00000222214.4:n.128-12dup
ENST00000222214.9:c.128-12dup ENSP00000222214.4:n.128-12dup
ENST00000421816.6:n.169-12dup
ENST00000585420.5:n.481dup
ENST00000585760.5:n.164-12dup
ENST00000587072.1:c.128-12dup ENSP00000468584.1:n.128-12dup
ENST00000587832.5:n.185-12dup
ENST00000588905.5:c.92-12dup ENSP00000465770.1:n.92-12dup
ENST00000589039.5:c.128-12dup ENSP00000465618.1:n.128-12dup
ENST00000590445.5:c.*5-12dup ENSP00000468125.1:n.*5-12dup
ENST00000590530.5:c.128-12dup ENSP00000468452.1:n.128-12dup
ENST00000590627.5:n.481dup
ENST00000591043.1:n.164-12dup
ENST00000591470.5:c.128-12dup ENSP00000466845.1:n.128-12dup
NM_000159.3:c.128-12dup NP_000150.1:n.128-12dup
NM_013976.3:c.128-12dup NP_039663.1:n.128-12dup
NR_102316.1:n.236-12dup
NR_102317.1:n.532dup
XM_006722721.2:c.128-12dup XP_006722784.1:n.128-12dup
XM_011527899.1:c.128-12dup XP_011526201.1:n.128-12dup
XM_011527900.1:c.128-12dup XP_011526202.1:n.128-12dup
XM_011527899.2:c.128-12dup XP_011526201.1:n.128-12dup
XM_011527900.2:c.128-12dup XP_011526202.1:n.128-12dup
XM_017026580.1:c.128-12dup XP_016882069.1:n.128-12dup
NM_000159.4:c.128-12dup MANE Select NP_000150.1:n.128-12dup
NM_013976.4:c.128-12dup NP_039663.1:n.128-12dup
NM_013976.5:c.128-12dup NP_039663.1:n.128-12dup