Canonical Allele Identifier: CA565099701
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Linked Data

dbSNP Id: rs1250556012
gnomAD v2: 6-7885199-TAA-T
gnomAD v3: 6-7884966-TAA-T
gnomAD v4: 6-7884966-TAA-T
MyVariant Identifiers: chr6:g.7885200_7885201del (hg19) chr6:g.7884967_7884968del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884967_7884968del , CM000668.2:g.7884967_7884968del GRCh38
NC_000006.11:g.7885200_7885201del , CM000668.1:g.7885200_7885201del GRCh37
NC_000006.10:g.7830199_7830200del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.1047-480_1047-479del (TXNDC5) MANE Select ENSP00000369081.4:n.1047-480_1047-479del
ENST00000379757.8:c.1047-480_1047-479del (TXNDC5) ENSP00000369081.4:n.1047-480_1047-479del
ENST00000439343.2:c.1156-480_1156-479del (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-480_1156-479del
ENST00000460138.5:n.825-480_825-479del (TXNDC5)
ENST00000473453.2:c.723-480_723-479del (TXNDC5) ENSP00000420784.1:n.723-480_723-479del
ENST00000475802.1:n.341-480_341-479del (TXNDC5)
NM_001145549.2:c.723-480_723-479del (TXNDC5) NP_001139021.1:n.723-480_723-479del
NM_030810.3:c.1047-480_1047-479del (TXNDC5) NP_110437.2:n.1047-480_1047-479del
NR_037616.1:n.1206-480_1206-479del (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-480_723-479del (TXNDC5) NP_001139021.1:n.723-480_723-479del
NM_030810.4:c.1047-480_1047-479del (TXNDC5) NP_110437.2:n.1047-480_1047-479del
NM_030810.5:c.1047-480_1047-479del (TXNDC5) MANE Select NP_110437.2:n.1047-480_1047-479del
NM_001145549.4:c.723-480_723-479del (TXNDC5) NP_001139021.1:n.723-480_723-479del
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