Canonical Allele Identifier: CA2795983780

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920809_51920812del , CM000674.2:g.51920809_51920812del	GRCh38
NC_000012.11:g.52314593_52314596del , CM000674.1:g.52314593_52314596del	GRCh37
NC_000012.10:g.50600860_50600863del	NCBI36
NG_009549.1:g.18392_18395del , LRG_543:g.18392_18395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1158_1161del	ENSP00000446724.2:p.Ser387ProfsTer24
ENST00000551576.6:c.1428_1431del	ENSP00000455848.2:p.Ser477ProfsTer24
ENST00000388922.9:c.1428_1431del MANE Select	ENSP00000373574.4:p.Ser477ProfsTer24
ENST00000388922.8:c.1428_1431del	ENSP00000373574.4:p.Ser477ProfsTer24
ENST00000419526.6:c.906_909del	ENSP00000392492.2:p.Ser303ProfsTer24
ENST00000550683.5:c.1470_1473del	ENSP00000447884.1:p.Ser491ProfsTer24
NM_000020.2:c.1428_1431del , LRG_543t1:c.1428_1431del	NP_000011.2:p.Ser477ProfsTer24
NM_001077401.1:c.1428_1431del	NP_001070869.1:p.Ser477ProfsTer24
XM_005269235.2:c.1428_1431del	XP_005269292.1:p.Ser477ProfsTer24
XM_011539008.1:c.1158_1161del	XP_011537310.1:p.Ser387ProfsTer24
XM_024449279.1:c.639_642del	XP_024305047.1:p.Ser214ProfsTer24
NM_000020.3:c.1428_1431del MANE Select	NP_000011.2:p.Ser477ProfsTer24
NM_001077401.2:c.1428_1431del	NP_001070869.1:p.Ser477ProfsTer24