Canonical Allele Identifier: CA2575265276

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830466-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830472del , CM000674.2:g.101830472del	GRCh38
NC_000012.11:g.102224250del , CM000674.1:g.102224250del	GRCh37
NC_000012.10:g.100748381del	NCBI36
NG_021243.1:g.5401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.117+92del MANE Select	ENSP00000299314.7:n.117+92del
ENST00000647144.1:n.105+92del
ENST00000299314.11:c.117+92del	ENSP00000299314.7:n.117+92del
ENST00000392919.4:c.117+92del	ENSP00000376651.4:n.117+92del
ENST00000549165.1:c.117+92del	ENSP00000450413.1:n.117+92del
ENST00000549940.5:c.117+92del	ENSP00000449150.1:n.117+92del
NM_024312.4:c.117+92del	NP_077288.2:n.117+92del
XM_006719593.2:c.117+92del	XP_006719656.1:n.117+92del
XM_006719593.3:c.117+92del	XP_006719656.1:n.117+92del
XM_017019961.1:c.-100+159del	XP_016875450.1:n.-100+159del
XM_017019962.2:c.-1234+92del	XP_016875451.1:n.-1234+92del
NM_024312.5:c.117+92del MANE Select	NP_077288.2:n.117+92del