Canonical Allele Identifier: CA2561325082
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884805_7884812del , CM000668.2:g.7884805_7884812del GRCh38
NC_000006.11:g.7885038_7885045del , CM000668.1:g.7885038_7885045del GRCh37
NC_000006.10:g.7830037_7830044del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.1047-320_1047-313del (TXNDC5) MANE Select ENSP00000369081.4:n.1047-320_1047-313del
ENST00000379757.8:c.1047-320_1047-313del (TXNDC5) ENSP00000369081.4:n.1047-320_1047-313del
ENST00000439343.2:c.1156-320_1156-313del (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-320_1156-313del
ENST00000460138.5:n.825-320_825-313del (TXNDC5)
ENST00000473453.2:c.723-320_723-313del (TXNDC5) ENSP00000420784.1:n.723-320_723-313del
ENST00000475802.1:n.341-320_341-313del (TXNDC5)
NM_001145549.2:c.723-320_723-313del (TXNDC5) NP_001139021.1:n.723-320_723-313del
NM_030810.3:c.1047-320_1047-313del (TXNDC5) NP_110437.2:n.1047-320_1047-313del
NR_037616.1:n.1206-320_1206-313del (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-320_723-313del (TXNDC5) NP_001139021.1:n.723-320_723-313del
NM_030810.4:c.1047-320_1047-313del (TXNDC5) NP_110437.2:n.1047-320_1047-313del
NM_030810.5:c.1047-320_1047-313del (TXNDC5) MANE Select NP_110437.2:n.1047-320_1047-313del
NM_001145549.4:c.723-320_723-313del (TXNDC5) NP_001139021.1:n.723-320_723-313del
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