Canonical Allele Identifier: CA2695216750

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915443_51915496del , CM000674.2:g.51915443_51915496del	GRCh38
NC_000012.11:g.52309227_52309280del , CM000674.1:g.52309227_52309280del	GRCh37
NC_000012.10:g.50595494_50595547del	NCBI36
NG_009549.1:g.13026_13079del , LRG_543:g.13026_13079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.721_774del	ENSP00000446724.2:p.Phe241_Asp258del
ENST00000551576.6:c.991_1044del	ENSP00000455848.2:p.Phe331_Asp348del
ENST00000552678.2:c.991_1044del	ENSP00000457394.2:p.Phe331_Asp348del
ENST00000388922.9:c.991_1044del MANE Select	ENSP00000373574.4:p.Phe331_Asp348del
ENST00000388922.8:c.991_1044del	ENSP00000373574.4:p.Phe331_Asp348del
ENST00000419526.6:c.469_522del	ENSP00000392492.2:p.Phe157_Asp174del
ENST00000550683.5:c.1033_1086del	ENSP00000447884.1:p.Phe345_Asp362del
NM_000020.2:c.991_1044del , LRG_543t1:c.991_1044del	NP_000011.2:p.Phe331_Asp348del
NM_001077401.1:c.991_1044del	NP_001070869.1:p.Phe331_Asp348del
XM_005269235.2:c.991_1044del	XP_005269292.1:p.Phe331_Asp348del
XM_011539008.1:c.721_774del	XP_011537310.1:p.Phe241_Asp258del
XM_024449279.1:c.202_255del	XP_024305047.1:p.Phe68_Asp85del
NM_000020.3:c.991_1044del MANE Select	NP_000011.2:p.Phe331_Asp348del
NM_001077401.2:c.991_1044del	NP_001070869.1:p.Phe331_Asp348del