Canonical Allele Identifier: CA134544997

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs916080150
• MyVariant Identifiers: chr6:g.7881942_7881943insAA (hg19) ; chr6:g.7881709_7881710insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881711_7881712dup , CM000668.2:g.7881711_7881712dup	GRCh38
NC_000006.11:g.7881944_7881945dup , CM000668.1:g.7881944_7881945dup	GRCh37
NC_000006.10:g.7826943_7826944dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.*1368_*1369dup (BMP6) MANE Select	ENSP00000283147.6:n.*1368_*1369dup
ENST00000379757.9:c.*1433_*1434dup (TXNDC5) MANE Select	ENSP00000369081.4:n.*1433_*1434dup
ENST00000379757.8:c.*1433_*1434dup (TXNDC5)	ENSP00000369081.4:n.*1433_*1434dup
ENST00000439343.2:c.2841_2842dup (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2841_2842dup
ENST00000460138.5:n.2510_2511dup (TXNDC5)
NM_001145549.2:c.*1433_*1434dup (TXNDC5)	NP_001139021.1:n.*1433_*1434dup
NM_001718.4:c.*1368_*1369dup (BMP6)	NP_001709.1:n.*1368_*1369dup
NM_030810.3:c.*1433_*1434dup (TXNDC5)	NP_110437.2:n.*1433_*1434dup
NR_037616.1:n.2891_2892dup (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1433_*1434dup (TXNDC5)	NP_001139021.1:n.*1433_*1434dup
NM_001718.5:c.*1368_*1369dup (BMP6)	NP_001709.1:n.*1368_*1369dup
NM_030810.4:c.*1433_*1434dup (TXNDC5)	NP_110437.2:n.*1433_*1434dup
NM_001718.6:c.*1368_*1369dup (BMP6) MANE Select	NP_001709.1:n.*1368_*1369dup
NM_030810.5:c.*1433_*1434dup (TXNDC5) MANE Select	NP_110437.2:n.*1433_*1434dup
NM_001145549.4:c.*1433_*1434dup (TXNDC5)	NP_001139021.1:n.*1433_*1434dup