Canonical Allele Identifier: CA2977854690

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913141_51913142del , CM000674.2:g.51913141_51913142del	GRCh38
NC_000012.11:g.52306925_52306926del , CM000674.1:g.52306925_52306926del	GRCh37
NC_000012.10:g.50593192_50593193del	NCBI36
NG_009549.1:g.10724_10725del , LRG_543:g.10724_10725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.146_147del	ENSP00000446724.2:p.Thr49MetfsTer2
ENST00000551576.6:c.104_105del	ENSP00000455848.2:p.Thr35MetfsTer2
ENST00000552678.2:c.104_105del	ENSP00000457394.2:p.Thr35MetfsTer2
ENST00000388922.9:c.104_105del MANE Select	ENSP00000373574.4:p.Thr35MetfsTer2
ENST00000388922.8:c.104_105del	ENSP00000373574.4:p.Thr35MetfsTer2
ENST00000419526.6:c.103+606_103+607del	ENSP00000392492.2:n.103+606_103+607del
ENST00000547400.5:c.146_147del	ENSP00000446724.1:p.Thr49MetfsTer2
ENST00000550683.5:c.146_147del	ENSP00000447884.1:p.Thr49MetfsTer2
ENST00000551576.5:c.104_105del	ENSP00000455848.1:p.Thr35MetfsTer2
NM_000020.2:c.104_105del , LRG_543t1:c.104_105del	NP_000011.2:p.Thr35MetfsTer2
NM_001077401.1:c.104_105del	NP_001070869.1:p.Thr35MetfsTer2
XM_005269235.2:c.104_105del	XP_005269292.1:p.Thr35MetfsTer2
XM_011539008.1:c.146_147del	XP_011537310.1:p.Thr49MetfsTer2
NM_000020.3:c.104_105del MANE Select	NP_000011.2:p.Thr35MetfsTer2
NM_001077401.2:c.104_105del	NP_001070869.1:p.Thr35MetfsTer2