Canonical Allele Identifier: CA1608776757

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881703_7881706delinsGATT , CM000668.2:g.7881703_7881706delinsGATT	GRCh38
NC_000006.11:g.7881936_7881939delinsGATT , CM000668.1:g.7881936_7881939delinsGATT	GRCh37
NC_000006.10:g.7826935_7826938delinsGATT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000283147.7:c.*1360_*1363delinsGATT (BMP6) MANE Select	ENSP00000283147.6:n.*1360_*1363delinsGATT
ENST00000379757.9:c.*1438_*1441delinsAATC (TXNDC5) MANE Select	ENSP00000369081.4:n.*1438_*1441delinsAATC
ENST00000379757.8:c.*1438_*1441delinsAATC (TXNDC5)	ENSP00000369081.4:n.*1438_*1441delinsAATC
ENST00000439343.2:c.2846_2849delinsAATC (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2846_2849delinsAATC
ENST00000460138.5:n.2515_2518delinsAATC (TXNDC5)
NM_001145549.2:c.*1438_*1441delinsAATC (TXNDC5)	NP_001139021.1:n.*1438_*1441delinsAATC
NM_001718.4:c.*1360_*1363delinsGATT (BMP6)	NP_001709.1:n.*1360_*1363delinsGATT
NM_030810.3:c.*1438_*1441delinsAATC (TXNDC5)	NP_110437.2:n.*1438_*1441delinsAATC
NR_037616.1:n.2896_2899delinsAATC (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1438_*1441delinsAATC (TXNDC5)	NP_001139021.1:n.*1438_*1441delinsAATC
NM_001718.5:c.*1360_*1363delinsGATT (BMP6)	NP_001709.1:n.*1360_*1363delinsGATT
NM_030810.4:c.*1438_*1441delinsAATC (TXNDC5)	NP_110437.2:n.*1438_*1441delinsAATC
NM_001718.6:c.*1360_*1363delinsGATT (BMP6) MANE Select	NP_001709.1:n.*1360_*1363delinsGATT
NM_030810.5:c.*1438_*1441delinsAATC (TXNDC5) MANE Select	NP_110437.2:n.*1438_*1441delinsAATC
NM_001145549.4:c.*1438_*1441delinsAATC (TXNDC5)	NP_001139021.1:n.*1438_*1441delinsAATC