Canonical Allele Identifier: CA134545012

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs544890940
• gnomAD v2: 6-7882016-GTCTTGTT-G
• gnomAD v3: 6-7881783-GTCTTGTT-G
• gnomAD v4: 6-7881783-GTCTTGTT-G
• MyVariant Identifiers: chr6:g.7882017_7882023del (hg19) ; chr6:g.7881784_7881790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881787_7881793del , CM000668.2:g.7881787_7881793del	GRCh38
NC_000006.11:g.7882020_7882026del , CM000668.1:g.7882020_7882026del	GRCh37
NC_000006.10:g.7827019_7827025del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.*1354_*1360del (TXNDC5) MANE Select	ENSP00000369081.4:n.*1354_*1360del
ENST00000379757.8:c.*1354_*1360del (TXNDC5)	ENSP00000369081.4:n.*1354_*1360del
ENST00000439343.2:c.2762_2768del (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2762_2768del
ENST00000460138.5:n.2431_2437del (TXNDC5)
NM_001145549.2:c.*1354_*1360del (TXNDC5)	NP_001139021.1:n.*1354_*1360del
NM_030810.3:c.*1354_*1360del (TXNDC5)	NP_110437.2:n.*1354_*1360del
NR_037616.1:n.2812_2818del (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1354_*1360del (TXNDC5)	NP_001139021.1:n.*1354_*1360del
NM_030810.4:c.*1354_*1360del (TXNDC5)	NP_110437.2:n.*1354_*1360del
NM_030810.5:c.*1354_*1360del (TXNDC5) MANE Select	NP_110437.2:n.*1354_*1360del
NM_001145549.4:c.*1354_*1360del (TXNDC5)	NP_001139021.1:n.*1354_*1360del