Canonical Allele Identifier: CA2591563371

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• gnomAD v3: 6-7881745-C-CTGCTGTTATCTTCTGCCTCA
• gnomAD v4: 6-7881745-C-CTGCTGTTATCTTCTGCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881746_7881765dup , CM000668.2:g.7881746_7881765dup	GRCh38
NC_000006.11:g.7881979_7881998dup , CM000668.1:g.7881979_7881998dup	GRCh37
NC_000006.10:g.7826978_7826997dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1379_*1398dup (TXNDC5) MANE Select	ENSP00000369081.4:n.*1379_*1398dup
ENST00000379757.8:c.*1379_*1398dup (TXNDC5)	ENSP00000369081.4:n.*1379_*1398dup
ENST00000439343.2:c.2787_2806dup (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2787_2806dup
ENST00000460138.5:n.2456_2475dup (TXNDC5)
NM_001145549.2:c.*1379_*1398dup (TXNDC5)	NP_001139021.1:n.*1379_*1398dup
NM_030810.3:c.*1379_*1398dup (TXNDC5)	NP_110437.2:n.*1379_*1398dup
NR_037616.1:n.2837_2856dup (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1379_*1398dup (TXNDC5)	NP_001139021.1:n.*1379_*1398dup
NM_030810.4:c.*1379_*1398dup (TXNDC5)	NP_110437.2:n.*1379_*1398dup
NM_030810.5:c.*1379_*1398dup (TXNDC5) MANE Select	NP_110437.2:n.*1379_*1398dup
NM_001145549.4:c.*1379_*1398dup (TXNDC5)	NP_001139021.1:n.*1379_*1398dup