Canonical Allele Identifier: CA343077

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757655del , CM000674.2:g.101757655del	GRCh38
NC_000012.11:g.102151433del , CM000674.1:g.102151433del	GRCh37
NC_000012.10:g.100675564del	NCBI36
NG_021243.1:g.78213del

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3252del MANE Select	NP_077288.2:p.Pro1085ArgfsTer6
ENST00000299314.12:c.3252del MANE Select	ENSP00000299314.7:p.Pro1085ArgfsTer6
NM_024312.4:c.3252del	NP_077288.2:p.Pro1085ArgfsTer6
ENST00000299314.11:c.3252del	ENSP00000299314.7:p.Pro1085ArgfsTer6
ENST00000549194.1:n.118del
ENST00000549738.5:c.3del	ENSP00000450161.1:p.Pro2ArgfsTer6
ENST00000550718.1:c.64del
XM_006719593.2:c.3252del	XP_006719656.1:p.Pro1085ArgfsTer6
XM_006719593.3:c.3252del	XP_006719656.1:p.Pro1085ArgfsTer6
XM_011538731.1:c.3171del	XP_011537033.1:p.Pro1058ArgfsTer6
XM_011538731.2:c.3171del	XP_011537033.1:p.Pro1058ArgfsTer6
XM_017019961.1:c.3036del	XP_016875450.1:p.Pro1013ArgfsTer6
XM_017019962.2:c.2025del	XP_016875451.1:p.Pro676ArgfsTer6