Canonical Allele Identifier: CA6747052

Gene: GNPTAB

Linked Data

• dbSNP Id: rs763614126
• ExAC: 12:102224494 C / CT
• gnomAD v2: 12-102224494-C-CT
• gnomAD v3: 12-101830716-C-CT
• gnomAD v4: 12-101830716-C-CT
• MyVariant Identifiers: chr12:g.102224494_102224495insT (hg19) ; chr12:g.101830716_101830717insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830716_101830717insT , CM000674.2:g.101830716_101830717insT	GRCh38
NC_000012.11:g.102224494_102224495insT , CM000674.1:g.102224494_102224495insT	GRCh37
NC_000012.10:g.100748625_100748626insT	NCBI36
NG_021243.1:g.5151_5152insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-42_-41insA MANE Select	ENSP00000299314.7:n.-42_-41insA
ENST00000299314.11:c.-42_-41insA	ENSP00000299314.7:n.-42_-41insA
ENST00000392919.4:c.-42_-41insA	ENSP00000376651.4:n.-42_-41insA
ENST00000549940.5:c.-42_-41insA	ENSP00000449150.1:n.-42_-41insA
NM_024312.4:c.-42_-41insA	NP_077288.2:n.-42_-41insA
XM_006719593.2:c.-42_-41insA	XP_006719656.1:n.-42_-41insA
XM_006719593.3:c.-42_-41insA	XP_006719656.1:n.-42_-41insA
XM_017019961.1:c.-191_-190insA	XP_016875450.1:n.-191_-190insA
XM_017019962.2:c.-1392_-1391insA	XP_016875451.1:n.-1392_-1391insA
NM_024312.5:c.-42_-41insA MANE Select	NP_077288.2:n.-42_-41insA