Canonical Allele Identifier: CA343376

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764372_101764376del , CM000674.2:g.101764372_101764376del	GRCh38
NC_000012.11:g.102158150_102158154del , CM000674.1:g.102158150_102158154del	GRCh37
NC_000012.10:g.100682281_100682285del	NCBI36
NG_021243.1:g.71501_71505del

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2550_2554del MANE Select	NP_077288.2:p.Lys850AsnfsTer10
ENST00000299314.12:c.2550_2554del MANE Select	ENSP00000299314.7:p.Lys850AsnfsTer10
NM_024312.4:c.2550_2554del	NP_077288.2:p.Lys850AsnfsTer10
ENST00000299314.11:c.2550_2554del	ENSP00000299314.7:p.Lys850AsnfsTer10
XM_006719593.2:c.2550_2554del	XP_006719656.1:p.Lys850AsnfsTer10
XM_006719593.3:c.2550_2554del	XP_006719656.1:p.Lys850AsnfsTer10
XM_011538731.1:c.2469_2473del	XP_011537033.1:p.Lys823AsnfsTer10
XM_011538731.2:c.2469_2473del	XP_011537033.1:p.Lys823AsnfsTer10
XM_017019961.1:c.2334_2338del	XP_016875450.1:p.Lys778AsnfsTer10
XM_017019962.2:c.1323_1327del	XP_016875451.1:p.Lys441AsnfsTer10