Canonical Allele Identifier: CA2650998781

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 2829713
• ClinVar RCV Id: RCV003694071
• gnomAD v4: 1-231265315-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265317del , CM000663.2:g.231265317del	GRCh38
NC_000001.10:g.231401063del , CM000663.1:g.231401063del	GRCh37
NC_000001.9:g.229467686del	NCBI36
NG_008240.1:g.29145del
NG_008240.2:g.29145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.593del MANE Select	ENSP00000355607.4:p.Gly198ValfsTer30
ENST00000644483.1:c.*279del	ENSP00000496537.1:n.*279del
ENST00000366647.8:c.593del	ENSP00000355607.4:p.Gly198ValfsTer30
ENST00000416000.1:c.563del	ENSP00000411640.1:p.Gly188ValfsTer30
ENST00000436239.5:c.410del	ENSP00000402811.1:p.Gly137ValfsTer30
NM_001316350.1:c.410del	NP_001303279.1:p.Gly137ValfsTer30
NM_014236.3:c.593del	NP_055051.1:p.Gly198ValfsTer30
XM_005273313.3:c.590del	XP_005273370.1:p.Gly197ValfsTer30
XM_011544303.1:c.266del	XP_011542605.1:p.Gly89ValfsTer30
XM_011544304.1:c.266del	XP_011542606.1:p.Gly89ValfsTer30
XM_005273313.4:c.590del	XP_005273370.1:p.Gly197ValfsTer30
XM_011544303.3:c.266del	XP_011542605.1:p.Gly89ValfsTer30
XM_011544304.2:c.266del	XP_011542606.1:p.Gly89ValfsTer30
NM_014236.4:c.593del MANE Select	NP_055051.1:p.Gly198ValfsTer30
NM_001316350.2:c.410del	NP_001303279.1:p.Gly137ValfsTer30