Canonical Allele Identifier: CA2739272048

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2841771
• ClinVar RCV Id: RCV003621161

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915303_51915357del , CM000674.2:g.51915303_51915357del	GRCh38
NC_000012.11:g.52309087_52309141del , CM000674.1:g.52309087_52309141del	GRCh37
NC_000012.10:g.50595354_50595408del	NCBI36
NG_009549.1:g.12886_12940del , LRG_543:g.12886_12940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.581_635del	ENSP00000446724.2:p.Ser194Ter
ENST00000551576.6:c.851_905del	ENSP00000455848.2:p.Ser284Ter
ENST00000552678.2:c.851_905del	ENSP00000457394.2:p.Ser284Ter
ENST00000388922.9:c.851_905del MANE Select	ENSP00000373574.4:p.Ser284Ter
ENST00000388922.8:c.851_905del	ENSP00000373574.4:p.Ser284Ter
ENST00000419526.6:c.329_383del	ENSP00000392492.2:p.Ser110Ter
ENST00000550683.5:c.893_947del	ENSP00000447884.1:p.Ser298Ter
NM_000020.2:c.851_905del , LRG_543t1:c.851_905del	NP_000011.2:p.Ser284Ter
NM_001077401.1:c.851_905del	NP_001070869.1:p.Ser284Ter
XM_005269235.2:c.851_905del	XP_005269292.1:p.Ser284Ter
XM_011539008.1:c.581_635del	XP_011537310.1:p.Ser194Ter
XM_024449279.1:c.62_116del	XP_024305047.1:p.Ser21Ter
NM_000020.3:c.851_905del MANE Select	NP_000011.2:p.Ser284Ter
NM_001077401.2:c.851_905del	NP_001070869.1:p.Ser284Ter