Canonical Allele Identifier: CA2695216738

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915263_51915275del , CM000674.2:g.51915263_51915275del	GRCh38
NC_000012.11:g.52309047_52309059del , CM000674.1:g.52309047_52309059del	GRCh37
NC_000012.10:g.50595314_50595326del	NCBI36
NG_009549.1:g.12846_12858del , LRG_543:g.12846_12858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.541_553del	ENSP00000446724.2:p.Thr181SerfsTer26
ENST00000551576.6:c.811_823del	ENSP00000455848.2:p.Thr271SerfsTer26
ENST00000552678.2:c.811_823del	ENSP00000457394.2:p.Thr271SerfsTer26
ENST00000388922.9:c.811_823del MANE Select	ENSP00000373574.4:p.Thr271SerfsTer26
ENST00000388922.8:c.811_823del	ENSP00000373574.4:p.Thr271SerfsTer26
ENST00000419526.6:c.289_301del	ENSP00000392492.2:p.Thr97SerfsTer26
ENST00000550683.5:c.853_865del	ENSP00000447884.1:p.Thr285SerfsTer26
NM_000020.2:c.811_823del , LRG_543t1:c.811_823del	NP_000011.2:p.Thr271SerfsTer26
NM_001077401.1:c.811_823del	NP_001070869.1:p.Thr271SerfsTer26
XM_005269235.2:c.811_823del	XP_005269292.1:p.Thr271SerfsTer26
XM_011539008.1:c.541_553del	XP_011537310.1:p.Thr181SerfsTer26
XM_024449279.1:c.22_34del	XP_024305047.1:p.Thr8SerfsTer26
NM_000020.3:c.811_823del MANE Select	NP_000011.2:p.Thr271SerfsTer26
NM_001077401.2:c.811_823del	NP_001070869.1:p.Thr271SerfsTer26