Canonical Allele Identifier: CA1608776829
Gene: TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881783_7881790delinsGTCTTGTT , CM000668.2:g.7881783_7881790delinsGTCTTGTT GRCh38
NC_000006.11:g.7882016_7882023delinsGTCTTGTT , CM000668.1:g.7882016_7882023delinsGTCTTGTT GRCh37
NC_000006.10:g.7827015_7827022delinsGTCTTGTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379757.9:c.*1354_*1361delinsAACAAGAC (TXNDC5) MANE Select ENSP00000369081.4:n.*1354_*1361delinsAACAAGAC
ENST00000379757.8:c.*1354_*1361delinsAACAAGAC (TXNDC5) ENSP00000369081.4:n.*1354_*1361delinsAACAAGAC
ENST00000439343.2:c.2762_2769delinsAACAAGAC (BLOC1S5-TXNDC5) ENSP00000454697.1:n.2762_2769delinsAACAAGAC
ENST00000460138.5:n.2431_2438delinsAACAAGAC (TXNDC5)
NM_001145549.2:c.*1354_*1361delinsAACAAGAC (TXNDC5) NP_001139021.1:n.*1354_*1361delinsAACAAGAC
NM_030810.3:c.*1354_*1361delinsAACAAGAC (TXNDC5) NP_110437.2:n.*1354_*1361delinsAACAAGAC
NR_037616.1:n.2812_2819delinsAACAAGAC (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1354_*1361delinsAACAAGAC (TXNDC5) NP_001139021.1:n.*1354_*1361delinsAACAAGAC
NM_030810.4:c.*1354_*1361delinsAACAAGAC (TXNDC5) NP_110437.2:n.*1354_*1361delinsAACAAGAC
NM_030810.5:c.*1354_*1361delinsAACAAGAC (TXNDC5) MANE Select NP_110437.2:n.*1354_*1361delinsAACAAGAC
NM_001145549.4:c.*1354_*1361delinsAACAAGAC (TXNDC5) NP_001139021.1:n.*1354_*1361delinsAACAAGAC