Canonical Allele Identifier: CA1608778591
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884815_7884816delinsAG , CM000668.2:g.7884815_7884816delinsAG GRCh38
NC_000006.11:g.7885048_7885049delinsAG , CM000668.1:g.7885048_7885049delinsAG GRCh37
NC_000006.10:g.7830047_7830048delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.1047-328_1047-327delinsCT (TXNDC5) MANE Select ENSP00000369081.4:n.1047-328_1047-327delinsCT
ENST00000379757.8:c.1047-328_1047-327delinsCT (TXNDC5) ENSP00000369081.4:n.1047-328_1047-327delinsCT
ENST00000439343.2:c.1156-328_1156-327delinsCT (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-328_1156-327delinsCT
ENST00000460138.5:n.825-328_825-327delinsCT (TXNDC5)
ENST00000473453.2:c.723-328_723-327delinsCT (TXNDC5) ENSP00000420784.1:n.723-328_723-327delinsCT
ENST00000475802.1:n.341-328_341-327delinsCT (TXNDC5)
NM_001145549.2:c.723-328_723-327delinsCT (TXNDC5) NP_001139021.1:n.723-328_723-327delinsCT
NM_030810.3:c.1047-328_1047-327delinsCT (TXNDC5) NP_110437.2:n.1047-328_1047-327delinsCT
NR_037616.1:n.1206-328_1206-327delinsCT (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-328_723-327delinsCT (TXNDC5) NP_001139021.1:n.723-328_723-327delinsCT
NM_030810.4:c.1047-328_1047-327delinsCT (TXNDC5) NP_110437.2:n.1047-328_1047-327delinsCT
NM_030810.5:c.1047-328_1047-327delinsCT (TXNDC5) MANE Select NP_110437.2:n.1047-328_1047-327delinsCT
NM_001145549.4:c.723-328_723-327delinsCT (TXNDC5) NP_001139021.1:n.723-328_723-327delinsCT