Canonical Allele Identifier: CA2530874244

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265440_231265441insGGAAGTCTAAAAAAGAGGGGATAATATTT , CM000663.2:g.231265440_231265441insGGAAGTCTAAAAAAGAGGGGATAATATTT	GRCh38
NC_000001.10:g.231401186_231401187insGGAAGTCTAAAAAAGAGGGGATAATATTT , CM000663.1:g.231401186_231401187insGGAAGTCTAAAAAAGAGGGGATAATATTT	GRCh37
NC_000001.9:g.229467809_229467810insGGAAGTCTAAAAAAGAGGGGATAATATTT	NCBI36
NG_008240.1:g.29268_29269insGGAAGTCTAAAAAAGAGGGGATAATATTT
NG_008240.2:g.29268_29269insGGAAGTCTAAAAAAGAGGGGATAATATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT MANE Select	ENSP00000355607.4:n.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAAT...
ENST00000644483.1:c.*382+20_*382+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	ENSP00000496537.1:n.*382+20_*382+21insGGAAGTCTAAAAAAGAGGGGATA...
ENST00000366647.8:c.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	ENSP00000355607.4:n.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAAT...
ENST00000416000.1:c.666+20_666+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	ENSP00000411640.1:n.666+20_666+21insGGAAGTCTAAAAAAGAGGGGATAAT...
ENST00000436239.5:c.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	ENSP00000402811.1:n.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAAT...
NM_001316350.1:c.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	NP_001303279.1:n.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
NM_014236.3:c.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	NP_055051.1:n.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT
XM_005273313.3:c.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_005273370.1:n.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
XM_011544303.1:c.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_011542605.1:n.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
XM_011544304.1:c.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_011542606.1:n.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
XM_005273313.4:c.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_005273370.1:n.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
XM_011544303.3:c.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_011542605.1:n.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
XM_011544304.2:c.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	XP_011542606.1:n.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATT...
NM_014236.4:c.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT MANE Select	NP_055051.1:n.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT
NM_001316350.2:c.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATTT	NP_001303279.1:n.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATT...