Canonical Allele Identifier: CA2580085720

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2186433
• ClinVar RCV Id: RCV002606639
• gnomAD v4: 12-101770209-CAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770213_101770216del , CM000674.2:g.101770213_101770216del	GRCh38
NC_000012.11:g.102163991_102163994del , CM000674.1:g.102163991_102163994del	GRCh37
NC_000012.10:g.100688122_100688125del	NCBI36
NG_021243.1:g.65655_65658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1114-22_1114-19del MANE Select	ENSP00000299314.7:n.1114-22_1114-19del
ENST00000299314.11:c.1114-22_1114-19del	ENSP00000299314.7:n.1114-22_1114-19del
ENST00000549940.5:c.1114-22_1114-19del	ENSP00000449150.1:n.1114-22_1114-19del
NM_024312.4:c.1114-22_1114-19del	NP_077288.2:n.1114-22_1114-19del
XM_006719593.2:c.1114-22_1114-19del	XP_006719656.1:n.1114-22_1114-19del
XM_011538731.1:c.1033-22_1033-19del	XP_011537033.1:n.1033-22_1033-19del
XM_006719593.3:c.1114-22_1114-19del	XP_006719656.1:n.1114-22_1114-19del
XM_011538731.2:c.1033-22_1033-19del	XP_011537033.1:n.1033-22_1033-19del
XM_017019961.1:c.898-22_898-19del	XP_016875450.1:n.898-22_898-19del
XM_017019962.2:c.-114-22_-114-19del	XP_016875451.1:n.-114-22_-114-19del
NM_024312.5:c.1114-22_1114-19del MANE Select	NP_077288.2:n.1114-22_1114-19del