Canonical Allele Identifier: CA223756

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780581_101780584del , CM000674.2:g.101780581_101780584del	GRCh38
NC_000012.11:g.102174359_102174362del , CM000674.1:g.102174359_102174362del	GRCh37
NC_000012.10:g.100698490_100698493del	NCBI36
NG_021243.1:g.55291_55294del

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.616_619del MANE Select	NP_077288.2:p.Thr206TyrfsTer6
ENST00000299314.12:c.616_619del MANE Select	ENSP00000299314.7:p.Thr206TyrfsTer6
NM_024312.4:c.616_619del	NP_077288.2:p.Thr206TyrfsTer6
ENST00000299314.11:c.616_619del	ENSP00000299314.7:p.Thr206TyrfsTer6
ENST00000549940.5:c.616_619del	ENSP00000449150.1:p.Thr206TyrfsTer6
ENST00000552681.1:c.250_253del	ENSP00000449217.1:p.Thr84TyrfsTer6
XM_006719593.2:c.616_619del	XP_006719656.1:p.Thr206TyrfsTer6
XM_006719593.3:c.616_619del	XP_006719656.1:p.Thr206TyrfsTer6
XM_011538731.1:c.535_538del	XP_011537033.1:p.Thr179TyrfsTer6
XM_011538731.2:c.535_538del	XP_011537033.1:p.Thr179TyrfsTer6
XM_017019961.1:c.400_403del	XP_016875450.1:p.Thr134TyrfsTer6
XM_017019962.2:c.-735_-732del	XP_016875451.1:n.-735_-732del