Canonical Allele Identifier: CA2058958197

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1953163152

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770980_101770982del , CM000674.2:g.101770980_101770982del	GRCh38
NC_000012.11:g.102164758_102164760del , CM000674.1:g.102164758_102164760del	GRCh37
NC_000012.10:g.100688889_100688891del	NCBI36
NG_021243.1:g.64888_64890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.933+16_933+18del MANE Select	ENSP00000299314.7:n.933+16_933+18del
ENST00000299314.11:c.933+16_933+18del	ENSP00000299314.7:n.933+16_933+18del
ENST00000549940.5:c.933+16_933+18del	ENSP00000449150.1:n.933+16_933+18del
NM_024312.4:c.933+16_933+18del	NP_077288.2:n.933+16_933+18del
XM_006719593.2:c.933+16_933+18del	XP_006719656.1:n.933+16_933+18del
XM_011538731.1:c.852+16_852+18del	XP_011537033.1:n.852+16_852+18del
XM_006719593.3:c.933+16_933+18del	XP_006719656.1:n.933+16_933+18del
XM_011538731.2:c.852+16_852+18del	XP_011537033.1:n.852+16_852+18del
XM_017019961.1:c.717+16_717+18del	XP_016875450.1:n.717+16_717+18del
XM_017019962.2:c.-418+16_-418+18del	XP_016875451.1:n.-418+16_-418+18del
NM_024312.5:c.933+16_933+18del MANE Select	NP_077288.2:n.933+16_933+18del