Canonical Allele Identifier: CA1608778657
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7884949_7884962delinsAGCATCAAGGCCAT , CM000668.2:g.7884949_7884962delinsAGCATCAAGGCCAT GRCh38
NC_000006.11:g.7885182_7885195delinsAGCATCAAGGCCAT , CM000668.1:g.7885182_7885195delinsAGCATCAAGGCCAT GRCh37
NC_000006.10:g.7830181_7830194delinsAGCATCAAGGCCAT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000379757.9:c.1047-474_1047-461delinsATGGCCTTGATGCT (TXNDC5) MANE Select ENSP00000369081.4:n.1047-474_1047-461deli...
ENST00000379757.8:c.1047-474_1047-461delinsATGGCCTTGATGCT (TXNDC5) ENSP00000369081.4:n.1047-474_1047-461deli...
ENST00000439343.2:c.1156-474_1156-461delinsATGGCCTTGATGCT (BLOC1S5-TXNDC5) ENSP00000454697.1:n.1156-474_1156-461deli...
ENST00000460138.5:n.825-474_825-461delinsATGGCCTTGATGCT (TXNDC5)
ENST00000473453.2:c.723-474_723-461delinsATGGCCTTGATGCT (TXNDC5) ENSP00000420784.1:n.723-474_723-461delins...
ENST00000475802.1:n.341-474_341-461delinsATGGCCTTGATGCT (TXNDC5)
NM_001145549.2:c.723-474_723-461delinsATGGCCTTGATGCT (TXNDC5) NP_001139021.1:n.723-474_723-461delinsATG...
NM_030810.3:c.1047-474_1047-461delinsATGGCCTTGATGCT (TXNDC5) NP_110437.2:n.1047-474_1047-461delinsATGG...
NR_037616.1:n.1206-474_1206-461delinsATGGCCTTGATGCT (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-474_723-461delinsATGGCCTTGATGCT (TXNDC5) NP_001139021.1:n.723-474_723-461delinsATG...
NM_030810.4:c.1047-474_1047-461delinsATGGCCTTGATGCT (TXNDC5) NP_110437.2:n.1047-474_1047-461delinsATGG...
NM_030810.5:c.1047-474_1047-461delinsATGGCCTTGATGCT (TXNDC5) MANE Select NP_110437.2:n.1047-474_1047-461delinsATGG...
NM_001145549.4:c.723-474_723-461delinsATGGCCTTGATGCT (TXNDC5) NP_001139021.1:n.723-474_723-461delinsATG...