Canonical Allele Identifier: CA6746893

Gene: GNPTAB

Linked Data

• dbSNP Id: rs768896327
• ExAC: 12:102180005 AAC / A
• gnomAD v2: 12-102180005-AAC-A
• gnomAD v3: 12-101786227-AAC-A
• gnomAD v4: 12-101786227-AAC-A
• MyVariant Identifiers: chr12:g.102180006_102180007del (hg19) ; chr12:g.101786228_101786229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786230_101786231del , CM000674.2:g.101786230_101786231del	GRCh38
NC_000012.11:g.102180008_102180009del , CM000674.1:g.102180008_102180009del	GRCh37
NC_000012.10:g.100704139_100704140del	NCBI36
NG_021243.1:g.49639_49640del

Transcript Alleles

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