Canonical Allele Identifier: CA2695217212

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770498del , CM000674.2:g.101770498del	GRCh38
NC_000012.11:g.102164276del , CM000674.1:g.102164276del	GRCh37
NC_000012.10:g.100688407del	NCBI36
NG_021243.1:g.65371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1022del MANE Select	ENSP00000299314.7:p.Pro341HisfsTer18
ENST00000299314.11:c.1022del	ENSP00000299314.7:p.Pro341HisfsTer18
ENST00000549940.5:c.1022del	ENSP00000449150.1:p.Pro341HisfsTer18
NM_024312.4:c.1022del	NP_077288.2:p.Pro341HisfsTer18
XM_006719593.2:c.1022del	XP_006719656.1:p.Pro341HisfsTer18
XM_011538731.1:c.941del	XP_011537033.1:p.Pro314HisfsTer18
XM_006719593.3:c.1022del	XP_006719656.1:p.Pro341HisfsTer18
XM_011538731.2:c.941del	XP_011537033.1:p.Pro314HisfsTer18
XM_017019961.1:c.806del	XP_016875450.1:p.Pro269HisfsTer18
XM_017019962.2:c.-206del	XP_016875451.1:n.-206del
NM_024312.5:c.1022del MANE Select	NP_077288.2:p.Pro341HisfsTer18