Canonical Allele Identifier: CA356551

Gene: GNPTAB

Linked Data

• PubMed: PMID:19197337 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[101757254G>A;101757257_101757258insG] , CM000674.2:g.[101757254G>A;101757257_101757258insG]	GRCh38
NC_000012.11:g.[102151032G>A;102151035_102151036insG] , CM000674.1:g.[102151032G>A;102151035_102151036insG]	GRCh37
NC_000012.10:g.[100675163G>A;100675166_100675167insG]	NCBI36
NG_021243.1:g.[78610_78611insC;78614C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.[3388_3389insC;3392C>T] MANE Select	ENSP00000299314.7:p.Val1130AlafsTer10
ENST00000299314.11:c.[3388_3389insC;3392C>T]	ENSP00000299314.7:p.Val1130AlafsTer10
ENST00000549194.1:n.[254_255insC;258C>T]
ENST00000549738.5:c.[139_140insC;143C>T]	ENSP00000450161.1:p.Val47AlafsTer10
ENST00000550718.1:c.[200_201insC;204C>T]
NM_024312.4:c.[3388_3389insC;3392C>T]	NP_077288.2:p.Val1130AlafsTer10
XM_006719593.2:c.[3388_3389insC;3392C>T]	XP_006719656.1:p.Val1130AlafsTer10
XM_011538731.1:c.[3307_3308insC;3311C>T]	XP_011537033.1:p.Val1103AlafsTer10
XM_006719593.3:c.[3388_3389insC;3392C>T]	XP_006719656.1:p.Val1130AlafsTer10
XM_011538731.2:c.[3307_3308insC;3311C>T]	XP_011537033.1:p.Val1103AlafsTer10
XM_017019961.1:c.[3172_3173insC;3176C>T]	XP_016875450.1:p.Val1058AlafsTer10
XM_017019962.2:c.[2161_2162insC;2165C>T]	XP_016875451.1:p.Val721AlafsTer10
NM_024312.5:c.[3388_3389insC;3392C>T] MANE Select	NP_077288.2:p.Val1130AlafsTer10