Canonical Allele Identifier: CA828414216

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1468843645
• gnomAD v3: 6-7881678-AAAG-A
• gnomAD v4: 6-7881678-AAAG-A
• MyVariant Identifiers: chr6:g.7881912_7881914del (hg19) ; chr6:g.7881679_7881681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881681_7881683del , CM000668.2:g.7881681_7881683del	GRCh38
NC_000006.11:g.7881914_7881916del , CM000668.1:g.7881914_7881916del	GRCh37
NC_000006.10:g.7826913_7826915del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.*1338_*1340del (BMP6) MANE Select	ENSP00000283147.6:n.*1338_*1340del
ENST00000379757.9:c.*1463_*1465del (TXNDC5) MANE Select	ENSP00000369081.4:n.*1463_*1465del
ENST00000379757.8:c.*1463_*1465del (TXNDC5)	ENSP00000369081.4:n.*1463_*1465del
ENST00000439343.2:c.2871_2873del (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2871_2873del
ENST00000460138.5:n.2540_2542del (TXNDC5)
NM_001145549.2:c.*1463_*1465del (TXNDC5)	NP_001139021.1:n.*1463_*1465del
NM_001718.4:c.*1338_*1340del (BMP6)	NP_001709.1:n.*1338_*1340del
NM_030810.3:c.*1463_*1465del (TXNDC5)	NP_110437.2:n.*1463_*1465del
NR_037616.1:n.2921_2923del (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1463_*1465del (TXNDC5)	NP_001139021.1:n.*1463_*1465del
NM_001718.5:c.*1338_*1340del (BMP6)	NP_001709.1:n.*1338_*1340del
NM_030810.4:c.*1463_*1465del (TXNDC5)	NP_110437.2:n.*1463_*1465del
NM_001718.6:c.*1338_*1340del (BMP6) MANE Select	NP_001709.1:n.*1338_*1340del
NM_030810.5:c.*1463_*1465del (TXNDC5) MANE Select	NP_110437.2:n.*1463_*1465del
NM_001145549.4:c.*1463_*1465del (TXNDC5)	NP_001139021.1:n.*1463_*1465del