Canonical Allele Identifier: CA254369

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914509_51914511del , CM000674.2:g.51914509_51914511del	GRCh38
NC_000012.11:g.52308293_52308295del , CM000674.1:g.52308293_52308295del	GRCh37
NC_000012.10:g.50594560_50594562del	NCBI36
NG_009549.1:g.12092_12094del , LRG_543:g.12092_12094del

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.696_698del MANE Select	NP_000011.2:p.Ser233del
ENST00000388922.9:c.696_698del MANE Select	ENSP00000373574.4:p.Ser233del
NM_000020.2:c.696_698del , LRG_543t1:c.696_698del	NP_000011.2:p.Ser233del
NM_001077401.1:c.696_698del	NP_001070869.1:p.Ser233del
NM_001077401.2:c.696_698del	NP_001070869.1:p.Ser233del
ENST00000388922.8:c.696_698del	ENSP00000373574.4:p.Ser233del
ENST00000419526.6:c.174_176del	ENSP00000392492.2:p.Ser59del
ENST00000547400.5:c.426_428del	ENSP00000446724.1:p.Ser143del
ENST00000547400.6:c.426_428del	ENSP00000446724.2:p.Ser143del
ENST00000550683.5:c.738_740del	ENSP00000447884.1:p.Ser247del
ENST00000551576.6:c.696_698del	ENSP00000455848.2:p.Ser233del
ENST00000552678.2:c.696_698del	ENSP00000457394.2:p.Ser233del
XM_005269235.2:c.696_698del	XP_005269292.1:p.Ser233del
XM_011539008.1:c.426_428del	XP_011537310.1:p.Ser143del
XM_024449279.1:c.-94_-92del	XP_024305047.1:n.-94_-92del