Canonical Allele Identifier: CA2695217196

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760111_101760121del , CM000674.2:g.101760111_101760121del	GRCh38
NC_000012.11:g.102153889_102153899del , CM000674.1:g.102153889_102153899del	GRCh37
NC_000012.10:g.100678020_100678030del	NCBI36
NG_021243.1:g.75751_75761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3162_3172del MANE Select	ENSP00000299314.7:p.Ile1055LysfsTer6
ENST00000299314.11:c.3162_3172del	ENSP00000299314.7:p.Ile1055LysfsTer6
ENST00000549194.1:n.28_38del
NM_024312.4:c.3162_3172del	NP_077288.2:p.Ile1055LysfsTer6
XM_006719593.2:c.3162_3172del	XP_006719656.1:p.Ile1055LysfsTer6
XM_011538731.1:c.3081_3091del	XP_011537033.1:p.Ile1028LysfsTer6
XM_006719593.3:c.3162_3172del	XP_006719656.1:p.Ile1055LysfsTer6
XM_011538731.2:c.3081_3091del	XP_011537033.1:p.Ile1028LysfsTer6
XM_017019961.1:c.2946_2956del	XP_016875450.1:p.Ile983LysfsTer6
XM_017019962.2:c.1935_1945del	XP_016875451.1:p.Ile646LysfsTer6
NM_024312.5:c.3162_3172del MANE Select	NP_077288.2:p.Ile1055LysfsTer6