Canonical Allele Identifier: CA343075

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 38423
• ClinVar RCV Id: RCV000031979
• dbSNP Id: rs34256381
• MyVariant Identifiers: chr12:g.102153823_102153826dupGTAG (hg19) ; chr12:g.102153822_102153823insGTAG (hg19) ; chr12:g.101760045_101760048dupGTAG (hg38) ; chr12:g.101760044_101760045insGTAG (hg38)
• PubMed: PMID:16465621 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760046_101760049dup , CM000674.2:g.101760046_101760049dup	GRCh38
NC_000012.11:g.102153824_102153827dup , CM000674.1:g.102153824_102153827dup	GRCh37
NC_000012.10:g.100677955_100677958dup	NCBI36
NG_021243.1:g.75820_75823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3231_3234dup MANE Select	ENSP00000299314.7:p.Tyr1079LeufsTer3
ENST00000299314.11:c.3231_3234dup	ENSP00000299314.7:p.Tyr1079LeufsTer3
ENST00000549194.1:n.97_100dup
ENST00000550718.1:c.43_46dup
NM_024312.4:c.3231_3234dup	NP_077288.2:p.Tyr1079LeufsTer3
XM_006719593.2:c.3231_3234dup	XP_006719656.1:p.Tyr1079LeufsTer3
XM_011538731.1:c.3150_3153dup	XP_011537033.1:p.Tyr1052LeufsTer3
XM_006719593.3:c.3231_3234dup	XP_006719656.1:p.Tyr1079LeufsTer3
XM_011538731.2:c.3150_3153dup	XP_011537033.1:p.Tyr1052LeufsTer3
XM_017019961.1:c.3015_3018dup	XP_016875450.1:p.Tyr1007LeufsTer3
XM_017019962.2:c.2004_2007dup	XP_016875451.1:p.Tyr670LeufsTer3
NM_024312.5:c.3231_3234dup MANE Select	NP_077288.2:p.Tyr1079LeufsTer3