Canonical Allele Identifier: CA565352961

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1561802204
• gnomAD v2: 6-7881909-A-AAAAAG
• gnomAD v3: 6-7881676-A-AAAAAG
• gnomAD v4: 6-7881676-A-AAAAAG
• MyVariant Identifiers: chr6:g.7881917_7881920delinsAAGAATTAT (hg19) ; chr6:g.7881684_7881687delinsAAGAATTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881679_7881683dup , CM000668.2:g.7881679_7881683dup	GRCh38
NC_000006.11:g.7881912_7881916dup , CM000668.1:g.7881912_7881916dup	GRCh37
NC_000006.10:g.7826911_7826915dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.*1336_*1340dup (BMP6) MANE Select	ENSP00000283147.6:n.*1336_*1340dup
ENST00000379757.9:c.*1463_*1467dup (TXNDC5) MANE Select	ENSP00000369081.4:n.*1463_*1467dup
ENST00000379757.8:c.*1463_*1467dup (TXNDC5)	ENSP00000369081.4:n.*1463_*1467dup
ENST00000439343.2:c.2871_2875dup (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2871_2875dup
ENST00000460138.5:n.2540_2544dup (TXNDC5)
NM_001145549.2:c.*1463_*1467dup (TXNDC5)	NP_001139021.1:n.*1463_*1467dup
NM_001718.4:c.*1336_*1340dup (BMP6)	NP_001709.1:n.*1336_*1340dup
NM_030810.3:c.*1463_*1467dup (TXNDC5)	NP_110437.2:n.*1463_*1467dup
NR_037616.1:n.2921_2925dup (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1463_*1467dup (TXNDC5)	NP_001139021.1:n.*1463_*1467dup
NM_001718.5:c.*1336_*1340dup (BMP6)	NP_001709.1:n.*1336_*1340dup
NM_030810.4:c.*1463_*1467dup (TXNDC5)	NP_110437.2:n.*1463_*1467dup
NM_001718.6:c.*1336_*1340dup (BMP6) MANE Select	NP_001709.1:n.*1336_*1340dup
NM_030810.5:c.*1463_*1467dup (TXNDC5) MANE Select	NP_110437.2:n.*1463_*1467dup
NM_001145549.4:c.*1463_*1467dup (TXNDC5)	NP_001139021.1:n.*1463_*1467dup