Canonical Allele Identifier: CA343368

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764673dup , CM000674.2:g.101764673dup	GRCh38
NC_000012.11:g.102158451dup , CM000674.1:g.102158451dup	GRCh37
NC_000012.10:g.100682582dup	NCBI36
NG_021243.1:g.71200dup

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2249dup MANE Select	NP_077288.2:p.Asn750LysfsTer8
ENST00000299314.12:c.2249dup MANE Select	ENSP00000299314.7:p.Asn750LysfsTer8
NM_024312.4:c.2249dup	NP_077288.2:p.Asn750LysfsTer8
ENST00000299314.11:c.2249dup	ENSP00000299314.7:p.Asn750LysfsTer8
XM_006719593.2:c.2249dup	XP_006719656.1:p.Asn750LysfsTer8
XM_006719593.3:c.2249dup	XP_006719656.1:p.Asn750LysfsTer8
XM_011538731.1:c.2168dup	XP_011537033.1:p.Asn723LysfsTer8
XM_011538731.2:c.2168dup	XP_011537033.1:p.Asn723LysfsTer8
XM_017019961.1:c.2033dup	XP_016875450.1:p.Asn678LysfsTer8
XM_017019962.2:c.1022dup	XP_016875451.1:p.Asn341LysfsTer8