Canonical Allele Identifier: CA2650998766

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265267-AATAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265270_231265275del , CM000663.2:g.231265270_231265275del	GRCh38
NC_000001.10:g.231401016_231401021del , CM000663.1:g.231401016_231401021del	GRCh37
NC_000001.9:g.229467639_229467644del	NCBI36
NG_008240.1:g.29098_29103del
NG_008240.2:g.29098_29103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.569-23_569-18del MANE Select	ENSP00000355607.4:n.569-23_569-18del
ENST00000644483.1:c.*255-23_*255-18del	ENSP00000496537.1:n.*255-23_*255-18del
ENST00000366647.8:c.569-23_569-18del	ENSP00000355607.4:n.569-23_569-18del
ENST00000416000.1:c.539-23_539-18del	ENSP00000411640.1:n.539-23_539-18del
ENST00000436239.5:c.386-23_386-18del	ENSP00000402811.1:n.386-23_386-18del
NM_001316350.1:c.386-23_386-18del	NP_001303279.1:n.386-23_386-18del
NM_014236.3:c.569-23_569-18del	NP_055051.1:n.569-23_569-18del
XM_005273313.3:c.566-23_566-18del	XP_005273370.1:n.566-23_566-18del
XM_011544303.1:c.242-23_242-18del	XP_011542605.1:n.242-23_242-18del
XM_011544304.1:c.242-23_242-18del	XP_011542606.1:n.242-23_242-18del
XM_005273313.4:c.566-23_566-18del	XP_005273370.1:n.566-23_566-18del
XM_011544303.3:c.242-23_242-18del	XP_011542605.1:n.242-23_242-18del
XM_011544304.2:c.242-23_242-18del	XP_011542606.1:n.242-23_242-18del
NM_014236.4:c.569-23_569-18del MANE Select	NP_055051.1:n.569-23_569-18del
NM_001316350.2:c.386-23_386-18del	NP_001303279.1:n.386-23_386-18del