Canonical Allele Identifier: CA2650998780

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265306-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265310del , CM000663.2:g.231265310del	GRCh38
NC_000001.10:g.231401056del , CM000663.1:g.231401056del	GRCh37
NC_000001.9:g.229467679del	NCBI36
NG_008240.1:g.29138del
NG_008240.2:g.29138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.586del MANE Select	ENSP00000355607.4:p.Met196TrpfsTer?
ENST00000644483.1:c.*272del	ENSP00000496537.1:n.*272del
ENST00000366647.8:c.586del	ENSP00000355607.4:p.Met196TrpfsTer?
ENST00000416000.1:c.556del	ENSP00000411640.1:p.Met186TrpfsTer?
ENST00000436239.5:c.403del	ENSP00000402811.1:p.Met135TrpfsTer?
NM_001316350.1:c.403del	NP_001303279.1:p.Met135TrpfsTer?
NM_014236.3:c.586del	NP_055051.1:p.Met196TrpfsTer?
XM_005273313.3:c.583del	XP_005273370.1:p.Met195TrpfsTer?
XM_011544303.1:c.259del	XP_011542605.1:p.Met87TrpfsTer?
XM_011544304.1:c.259del	XP_011542606.1:p.Met87TrpfsTer?
XM_005273313.4:c.583del	XP_005273370.1:p.Met195TrpfsTer?
XM_011544303.3:c.259del	XP_011542605.1:p.Met87TrpfsTer?
XM_011544304.2:c.259del	XP_011542606.1:p.Met87TrpfsTer?
NM_014236.4:c.586del MANE Select	NP_055051.1:p.Met196TrpfsTer?
NM_001316350.2:c.403del	NP_001303279.1:p.Met135TrpfsTer?