Canonical Allele Identifier: CA2058958007

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770495_101770498delinsATGG , CM000674.2:g.101770495_101770498delinsATGG	GRCh38
NC_000012.11:g.102164273_102164276delinsATGG , CM000674.1:g.102164273_102164276delinsATGG	GRCh37
NC_000012.10:g.100688404_100688407delinsATGG	NCBI36
NG_021243.1:g.65370_65373delinsCCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1021_1024delinsCCAT MANE Select	ENSP00000299314.7:p.Pro341=
ENST00000299314.11:c.1021_1024delinsCCAT	ENSP00000299314.7:p.Pro341=
ENST00000549940.5:c.1021_1024delinsCCAT	ENSP00000449150.1:p.Pro341=
NM_024312.4:c.1021_1024delinsCCAT	NP_077288.2:p.Pro341=
XM_006719593.2:c.1021_1024delinsCCAT	XP_006719656.1:p.Pro341=
XM_011538731.1:c.940_943delinsCCAT	XP_011537033.1:p.Pro314=
XM_006719593.3:c.1021_1024delinsCCAT	XP_006719656.1:p.Pro341=
XM_011538731.2:c.940_943delinsCCAT	XP_011537033.1:p.Pro314=
XM_017019961.1:c.805_808delinsCCAT	XP_016875450.1:p.Pro269=
XM_017019962.2:c.-207_-204delinsCCAT	XP_016875451.1:n.-207_-204delinsCCAT
NM_024312.5:c.1021_1024delinsCCAT MANE Select	NP_077288.2:p.Pro341=