Canonical Allele Identifier: CA915953073
Gene: TGM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 805659
ClinVar RCV Id: RCV000993311
dbSNP Id: rs1599961411
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417328_2417359dup , CM000682.2:g.2417328_2417359dup GRCh38
NC_000020.10:g.2397974_2398005dup , CM000682.1:g.2397974_2398005dup GRCh37
NC_000020.9:g.2345974_2346005dup NCBI36
NG_031917.1:g.41421_41452dup

Transcript Alleles

HGVS Amino-acid change
ENST00000202625.7:c.1433_1464dup MANE Select ENSP00000202625.2:p.Pro489ValfsTer25
ENST00000202625.6:c.1433_1464dup ENSP00000202625.2:p.Pro489ValfsTer25
ENST00000381423.1:c.1433_1464dup ENSP00000370831.1:p.Pro489ValfsTer25
NM_001254734.1:c.1433_1464dup NP_001241663.1:p.Pro489ValfsTer25
NM_198994.2:c.1433_1464dup NP_945345.2:p.Pro489ValfsTer25
NM_001254734.2:c.1433_1464dup NP_001241663.1:p.Pro489ValfsTer25
NM_198994.3:c.1433_1464dup MANE Select NP_945345.2:p.Pro489ValfsTer25
Search 100 bp 5'
Search 100 bp 3'