Canonical Allele Identifier: CA6746732

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 556992
• ClinVar RCV Id: RCV000673068
• dbSNP Id: rs748809942
• ExAC: 12:102164276 G / GTGCA
• gnomAD v2: 12-102164276-G-GTGCA
• gnomAD v4: 12-101770498-G-GTGCA
• MyVariant Identifiers: chr12:g.102164276_102164277insTGCA (hg19) ; chr12:g.101770499_101770502dup (hg38) ; chr12:g.101770498_101770499insTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770502_101770505dup , CM000674.2:g.101770502_101770505dup	GRCh38
NC_000012.11:g.102164280_102164283dup , CM000674.1:g.102164280_102164283dup	GRCh37
NC_000012.10:g.100688411_100688414dup	NCBI36
NG_021243.1:g.65366_65369dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1017_1020dup MANE Select	ENSP00000299314.7:p.Pro341CysfsTer22
ENST00000299314.11:c.1017_1020dup	ENSP00000299314.7:p.Pro341CysfsTer22
ENST00000549940.5:c.1017_1020dup	ENSP00000449150.1:p.Pro341CysfsTer22
NM_024312.4:c.1017_1020dup	NP_077288.2:p.Pro341CysfsTer22
XM_006719593.2:c.1017_1020dup	XP_006719656.1:p.Pro341CysfsTer22
XM_011538731.1:c.936_939dup	XP_011537033.1:p.Pro314CysfsTer22
XM_006719593.3:c.1017_1020dup	XP_006719656.1:p.Pro341CysfsTer22
XM_011538731.2:c.936_939dup	XP_011537033.1:p.Pro314CysfsTer22
XM_017019961.1:c.801_804dup	XP_016875450.1:p.Pro269CysfsTer22
XM_017019962.2:c.-211_-208dup	XP_016875451.1:n.-211_-208dup
NM_024312.5:c.1017_1020dup MANE Select	NP_077288.2:p.Pro341CysfsTer22