Canonical Allele Identifier: CA2977854956

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913341del , CM000674.2:g.51913341del	GRCh38
NC_000012.11:g.52307125del , CM000674.1:g.52307125del	GRCh37
NC_000012.10:g.50593392del	NCBI36
NG_009549.1:g.10924del , LRG_543:g.10924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.346del	ENSP00000446724.2:p.Val116CysfsTer?
ENST00000551576.6:c.304del	ENSP00000455848.2:p.Val102CysfsTer20
ENST00000552678.2:c.304del	ENSP00000457394.2:p.Val102CysfsTer20
ENST00000388922.9:c.304del MANE Select	ENSP00000373574.4:p.Val102CysfsTer20
ENST00000388922.8:c.304del	ENSP00000373574.4:p.Val102CysfsTer20
ENST00000419526.6:c.103+806del	ENSP00000392492.2:n.103+806del
ENST00000547400.5:c.346del	ENSP00000446724.1:p.Val116CysfsTer?
ENST00000550683.5:c.346del	ENSP00000447884.1:p.Val116CysfsTer20
NM_000020.2:c.304del , LRG_543t1:c.304del	NP_000011.2:p.Val102CysfsTer20
NM_001077401.1:c.304del	NP_001070869.1:p.Val102CysfsTer20
XM_005269235.2:c.304del	XP_005269292.1:p.Val102CysfsTer20
XM_011539008.1:c.346del	XP_011537310.1:p.Val116CysfsTer?
XM_024449279.1:c.-386del	XP_024305047.1:n.-386del
NM_000020.3:c.304del MANE Select	NP_000011.2:p.Val102CysfsTer20
NM_001077401.2:c.304del	NP_001070869.1:p.Val102CysfsTer20