Canonical Allele Identifier: CA2620446373

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786293-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786294_101786296del , CM000674.2:g.101786294_101786296del	GRCh38
NC_000012.11:g.102180072_102180074del , CM000674.1:g.102180072_102180074del	GRCh37
NC_000012.10:g.100704203_100704205del	NCBI36
NG_021243.1:g.49572_49574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-79_366-77del MANE Select	ENSP00000299314.7:n.366-79_366-77del
ENST00000299314.11:c.366-79_366-77del	ENSP00000299314.7:n.366-79_366-77del
ENST00000549940.5:c.366-79_366-77del	ENSP00000449150.1:n.366-79_366-77del
ENST00000550352.1:n.160-79_160-77del
NM_024312.4:c.366-79_366-77del	NP_077288.2:n.366-79_366-77del
XM_006719593.2:c.366-79_366-77del	XP_006719656.1:n.366-79_366-77del
XM_011538731.1:c.285-79_285-77del	XP_011537033.1:n.285-79_285-77del
XM_006719593.3:c.366-79_366-77del	XP_006719656.1:n.366-79_366-77del
XM_011538731.2:c.285-79_285-77del	XP_011537033.1:n.285-79_285-77del
XM_017019961.1:c.150-79_150-77del	XP_016875450.1:n.150-79_150-77del
XM_017019962.2:c.-985-79_-985-77del	XP_016875451.1:n.-985-79_-985-77del
NM_024312.5:c.366-79_366-77del MANE Select	NP_077288.2:n.366-79_366-77del