Canonical Allele Identifier: CA2739276516

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2865577
• ClinVar RCV Id: RCV003602606

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891515_12891518del , CM000681.2:g.12891515_12891518del	GRCh38
NC_000019.9:g.13002329_13002332del , CM000681.1:g.13002329_13002332del	GRCh37
NC_000019.8:g.12863329_12863332del	NCBI36
NG_009292.1:g.5356_5359del
NG_013087.1:g.688_691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.120_123del MANE Select	ENSP00000222214.4:p.Ala41SerfsTer19
ENST00000222214.9:c.120_123del	ENSP00000222214.4:p.Ala41SerfsTer19
ENST00000421816.6:n.168+120_168+123del
ENST00000585420.5:n.177_180del
ENST00000585760.5:n.156_159del
ENST00000587072.1:c.120_123del	ENSP00000468584.1:p.Ala41SerfsTer19
ENST00000587832.5:n.177_180del
ENST00000588905.5:c.91+120_91+123del	ENSP00000465770.1:n.91+120_91+123del
ENST00000589039.5:c.120_123del	ENSP00000465618.1:p.Ala41SerfsTer19
ENST00000590445.5:c.120_123del	ENSP00000468125.1:p.Ala41SerfsTer?
ENST00000590530.5:c.120_123del	ENSP00000468452.1:p.Ala41SerfsTer19
ENST00000590627.5:n.177_180del
ENST00000591043.1:n.156_159del
ENST00000591470.5:c.120_123del	ENSP00000466845.1:p.Ala41SerfsTer19
NM_000159.3:c.120_123del	NP_000150.1:p.Ala41SerfsTer19
NM_013976.3:c.120_123del	NP_039663.1:p.Ala41SerfsTer19
NR_102316.1:n.228_231del
NR_102317.1:n.228_231del
XM_006722721.2:c.120_123del	XP_006722784.1:p.Ala41SerfsTer19
XM_011527899.1:c.120_123del	XP_011526201.1:p.Ala41SerfsTer19
XM_011527900.1:c.120_123del	XP_011526202.1:p.Ala41SerfsTer19
XM_011527899.2:c.120_123del	XP_011526201.1:p.Ala41SerfsTer19
XM_011527900.2:c.120_123del	XP_011526202.1:p.Ala41SerfsTer19
XM_017026580.1:c.120_123del	XP_016882069.1:p.Ala41SerfsTer19
NM_000159.4:c.120_123del MANE Select	NP_000150.1:p.Ala41SerfsTer19
NM_013976.4:c.120_123del	NP_039663.1:p.Ala41SerfsTer19
NM_013976.5:c.120_123del	NP_039663.1:p.Ala41SerfsTer19