Canonical Allele Identifier: CA9234648

Gene: GCDH

Linked Data

• dbSNP Id: rs772264579
• ExAC: 19:13008728 GGGT / G
• gnomAD v2: 19-13008728-GGGT-G
• gnomAD v3: 19-12897914-GGGT-G
• gnomAD v4: 19-12897914-GGGT-G
• MyVariant Identifiers: chr19:g.13008729_13008731del (hg19) ; chr19:g.12897915_12897917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897915_12897917del , CM000681.2:g.12897915_12897917del	GRCh38
NC_000019.9:g.13008729_13008731del , CM000681.1:g.13008729_13008731del	GRCh37
NC_000019.8:g.12869729_12869731del	NCBI36
NG_009292.1:g.11756_11758del
NG_033049.1:g.26356_26358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1243+52_1243+54del MANE Select	ENSP00000222214.4:n.1243+52_1243+54del
ENST00000222214.9:c.1243+52_1243+54del	ENSP00000222214.4:n.1243+52_1243+54del
ENST00000585420.5:n.1573+52_1573+54del
ENST00000590472.5:c.287+52_287+54del
ENST00000590530.5:c.*683+52_*683+54del	ENSP00000468452.1:n.*683+52_*683+54del
ENST00000591043.1:n.1553+52_1553+54del
ENST00000591050.1:c.210+52_210+54del
ENST00000591470.5:c.1243+52_1243+54del	ENSP00000466845.1:n.1243+52_1243+54del
NM_000159.3:c.1243+52_1243+54del	NP_000150.1:n.1243+52_1243+54del
NM_013976.3:c.1243+52_1243+54del	NP_039663.1:n.1243+52_1243+54del
NR_102316.1:n.1406+52_1406+54del
NR_102317.1:n.1624+52_1624+54del
XM_006722721.2:c.1243+52_1243+54del	XP_006722784.1:n.1243+52_1243+54del
XM_011527899.1:c.1243+52_1243+54del	XP_011526201.1:n.1243+52_1243+54del
XM_011527900.1:c.1243+52_1243+54del	XP_011526202.1:n.1243+52_1243+54del
XM_011527899.2:c.1243+52_1243+54del	XP_011526201.1:n.1243+52_1243+54del
XM_011527900.2:c.1243+52_1243+54del	XP_011526202.1:n.1243+52_1243+54del
XM_017026580.1:c.1243+52_1243+54del	XP_016882069.1:n.1243+52_1243+54del
NM_000159.4:c.1243+52_1243+54del MANE Select	NP_000150.1:n.1243+52_1243+54del
NM_013976.4:c.1243+52_1243+54del	NP_039663.1:n.1243+52_1243+54del
NM_013976.5:c.1243+52_1243+54del	NP_039663.1:n.1243+52_1243+54del