Canonical Allele Identifier: CA632121710

Gene: GCDH

Linked Data

• dbSNP Id: rs1485445178
• gnomAD v2: 19-13002709-GATCCTC-G
• gnomAD v4: 19-12891895-GATCCTC-G
• MyVariant Identifiers: chr19:g.13002710_13002715del (hg19) ; chr19:g.12891896_12891901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891899_12891904del , CM000681.2:g.12891899_12891904del	GRCh38
NC_000019.9:g.13002713_13002718del , CM000681.1:g.13002713_13002718del	GRCh37
NC_000019.8:g.12863713_12863718del	NCBI36
NG_009292.1:g.5740_5745del
NG_013087.1:g.303_308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.196_201del MANE Select	ENSP00000222214.4:p.Leu66_Ile67del
ENST00000222214.9:c.196_201del	ENSP00000222214.4:p.Leu66_Ile67del
ENST00000421816.6:n.237_242del
ENST00000585420.5:n.561_566del
ENST00000585760.5:n.232_237del
ENST00000587072.1:c.196_201del	ENSP00000468584.1:p.Leu66_Ile67del
ENST00000587832.5:n.253_258del
ENST00000588905.5:c.160_165del	ENSP00000465770.1:p.Leu54_Ile55del
ENST00000589039.5:c.196_201del	ENSP00000465618.1:p.Leu66_Ile67del
ENST00000590445.5:c.*73_*78del	ENSP00000468125.1:n.*73_*78del
ENST00000590530.5:c.196_201del	ENSP00000468452.1:p.Leu66_Ile67del
ENST00000590627.5:n.561_566del
ENST00000591043.1:n.232_237del
ENST00000591470.5:c.196_201del	ENSP00000466845.1:p.Leu66_Ile67del
NM_000159.3:c.196_201del	NP_000150.1:p.Leu66_Ile67del
NM_013976.3:c.196_201del	NP_039663.1:p.Leu66_Ile67del
NR_102316.1:n.304_309del
NR_102317.1:n.612_617del
XM_006722721.2:c.196_201del	XP_006722784.1:p.Leu66_Ile67del
XM_011527899.1:c.196_201del	XP_011526201.1:p.Leu66_Ile67del
XM_011527900.1:c.196_201del	XP_011526202.1:p.Leu66_Ile67del
XM_011527899.2:c.196_201del	XP_011526201.1:p.Leu66_Ile67del
XM_011527900.2:c.196_201del	XP_011526202.1:p.Leu66_Ile67del
XM_017026580.1:c.196_201del	XP_016882069.1:p.Leu66_Ile67del
NM_000159.4:c.196_201del MANE Select	NP_000150.1:p.Leu66_Ile67del
NM_013976.4:c.196_201del	NP_039663.1:p.Leu66_Ile67del
NM_013976.5:c.196_201del	NP_039663.1:p.Leu66_Ile67del