Canonical Allele Identifier: CA1085724722
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Linked Data

dbSNP Id: rs1759910082
gnomAD v3: 6-7884949-AGCATCAAGGCCAT-A
gnomAD v4: 6-7884949-AGCATCAAGGCCAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884951_7884963del , CM000668.2:g.7884951_7884963del GRCh38
NC_000006.11:g.7885184_7885196del , CM000668.1:g.7885184_7885196del GRCh37
NC_000006.10:g.7830183_7830195del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.1047-474_1047-462del (TXNDC5) MANE Select ENSP00000369081.4:n.1047-474_1047-462del
ENST00000379757.8:c.1047-474_1047-462del (TXNDC5) ENSP00000369081.4:n.1047-474_1047-462del
ENST00000439343.2:c.1156-474_1156-462del (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-474_1156-462del
ENST00000460138.5:n.825-474_825-462del (TXNDC5)
ENST00000473453.2:c.723-474_723-462del (TXNDC5) ENSP00000420784.1:n.723-474_723-462del
ENST00000475802.1:n.341-474_341-462del (TXNDC5)
NM_001145549.2:c.723-474_723-462del (TXNDC5) NP_001139021.1:n.723-474_723-462del
NM_030810.3:c.1047-474_1047-462del (TXNDC5) NP_110437.2:n.1047-474_1047-462del
NR_037616.1:n.1206-474_1206-462del (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-474_723-462del (TXNDC5) NP_001139021.1:n.723-474_723-462del
NM_030810.4:c.1047-474_1047-462del (TXNDC5) NP_110437.2:n.1047-474_1047-462del
NM_030810.5:c.1047-474_1047-462del (TXNDC5) MANE Select NP_110437.2:n.1047-474_1047-462del
NM_001145549.4:c.723-474_723-462del (TXNDC5) NP_001139021.1:n.723-474_723-462del
Search 100 bp 5'
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