Canonical Allele Identifier: CA479813976

Gene: ACVRL1

Linked Data

• COSMIC: COSM48945
• MyVariant Identifiers: chr12:g.52312812del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919028del , CM000674.2:g.51919028del	GRCh38
NC_000012.11:g.52312812del , CM000674.1:g.52312812del	GRCh37
NC_000012.10:g.50599079del	NCBI36
NG_009549.1:g.16611del , LRG_543:g.16611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1020del	ENSP00000446724.2:p.Asn341MetfsTer8
ENST00000551576.6:c.1290del	ENSP00000455848.2:p.Asn431MetfsTer8
ENST00000552678.2:c.1290del	ENSP00000457394.2:p.Asn431MetfsTer8
ENST00000388922.9:c.1290del MANE Select	ENSP00000373574.4:p.Asn431MetfsTer8
ENST00000388922.8:c.1290del	ENSP00000373574.4:p.Asn431MetfsTer8
ENST00000419526.6:c.768del	ENSP00000392492.2:p.Asn257MetfsTer8
ENST00000547632.1:n.565del
ENST00000550683.5:c.1332del	ENSP00000447884.1:p.Asn445MetfsTer8
ENST00000552678.1:c.295del
NM_000020.2:c.1290del , LRG_543t1:c.1290del	NP_000011.2:p.Asn431MetfsTer8
NM_001077401.1:c.1290del	NP_001070869.1:p.Asn431MetfsTer8
XM_005269235.2:c.1290del	XP_005269292.1:p.Asn431MetfsTer8
XM_011539008.1:c.1020del	XP_011537310.1:p.Asn341MetfsTer8
XM_024449279.1:c.501del	XP_024305047.1:p.Asn168MetfsTer8
NM_000020.3:c.1290del MANE Select	NP_000011.2:p.Asn431MetfsTer8
NM_001077401.2:c.1290del	NP_001070869.1:p.Asn431MetfsTer8