Canonical Allele Identifier: CA10588962

Gene: TXNDC15

Linked Data

• ClinVar Variation Id: 266074
• ClinVar RCV Id: RCV000256431 ; RCV002248498
• dbSNP Id: rs886039791
• MyVariant Identifiers: chr5:g.134229262_134229276del (hg19) ; chr5:g.134893572_134893586del (hg38)
• PubMed: PMID:27894351

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134893573_134893587del , CM000667.2:g.134893573_134893587del	GRCh38
NC_000005.9:g.134229263_134229277del , CM000667.1:g.134229263_134229277del	GRCh37
NC_000005.8:g.134257162_134257176del	NCBI36
NG_053174.1:g.24804_24818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358387.9:c.673_687del MANE Select	ENSP00000351157.5:p.Ser225_His229del
ENST00000358387.8:c.673_687del	ENSP00000351157.4:p.Ser225_His229del
ENST00000505174.1:n.1396_1410del
ENST00000506350.1:n.112_126del
ENST00000507024.5:c.*491_*505del	ENSP00000424716.1:n.*491_*505del
ENST00000508779.1:c.624_638del
ENST00000511070.5:c.*50_*64del	ENSP00000423609.1:n.*50_*64del
NM_024715.3:c.673_687del	NP_078991.3:p.Ser225_His229del
NM_001350735.1:c.469_483del	NP_001337664.1:p.Ser157_His161del
NM_024715.4:c.673_687del MANE Select	NP_078991.3:p.Ser225_His229del
NM_001350735.2:c.469_483del	NP_001337664.1:p.Ser157_His161del