Canonical Allele Identifier: CA1226903969

Gene: GNPAT

Linked Data

• dbSNP Id: rs1428153549

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231277762_231277763del , CM000663.2:g.231277762_231277763del	GRCh38
NC_000001.10:g.231413508_231413509del , CM000663.1:g.231413508_231413509del	GRCh37
NC_000001.9:g.229480131_229480132del	NCBI36
NG_008240.1:g.41590_41591del
NG_008240.2:g.41590_41591del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366647.9:c.*220_*221del MANE Select	ENSP00000355607.4:n.*220_*221del
ENST00000644483.1:c.*1949_*1950del	ENSP00000496537.1:n.*1949_*1950del
ENST00000366647.8:c.*220_*221del	ENSP00000355607.4:n.*220_*221del
NM_001316350.1:c.*220_*221del	NP_001303279.1:n.*220_*221del
NM_014236.3:c.*220_*221del	NP_055051.1:n.*220_*221del
XM_005273313.3:c.*220_*221del	XP_005273370.1:n.*220_*221del
XM_011544303.1:c.*220_*221del	XP_011542605.1:n.*220_*221del
XM_011544304.1:c.*220_*221del	XP_011542606.1:n.*220_*221del
XM_005273313.4:c.*220_*221del	XP_005273370.1:n.*220_*221del
XM_011544303.3:c.*220_*221del	XP_011542605.1:n.*220_*221del
XM_011544304.2:c.*220_*221del	XP_011542606.1:n.*220_*221del
NM_014236.4:c.*220_*221del MANE Select	NP_055051.1:n.*220_*221del
NM_001316350.2:c.*220_*221del	NP_001303279.1:n.*220_*221del