Canonical Allele Identifier: CA2574154354

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265342-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265347del , CM000663.2:g.231265347del	GRCh38
NC_000001.10:g.231401093del , CM000663.1:g.231401093del	GRCh37
NC_000001.9:g.229467716del	NCBI36
NG_008240.1:g.29175del
NG_008240.2:g.29175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.623del MANE Select	ENSP00000355607.4:p.Phe208SerfsTer20
ENST00000644483.1:c.*309del	ENSP00000496537.1:n.*309del
ENST00000366647.8:c.623del	ENSP00000355607.4:p.Phe208SerfsTer20
ENST00000416000.1:c.593del	ENSP00000411640.1:p.Phe198SerfsTer20
ENST00000436239.5:c.440del	ENSP00000402811.1:p.Phe147SerfsTer20
NM_001316350.1:c.440del	NP_001303279.1:p.Phe147SerfsTer20
NM_014236.3:c.623del	NP_055051.1:p.Phe208SerfsTer20
XM_005273313.3:c.620del	XP_005273370.1:p.Phe207SerfsTer20
XM_011544303.1:c.296del	XP_011542605.1:p.Phe99SerfsTer20
XM_011544304.1:c.296del	XP_011542606.1:p.Phe99SerfsTer20
XM_005273313.4:c.620del	XP_005273370.1:p.Phe207SerfsTer20
XM_011544303.3:c.296del	XP_011542605.1:p.Phe99SerfsTer20
XM_011544304.2:c.296del	XP_011542606.1:p.Phe99SerfsTer20
NM_014236.4:c.623del MANE Select	NP_055051.1:p.Phe208SerfsTer20
NM_001316350.2:c.440del	NP_001303279.1:p.Phe147SerfsTer20