Canonical Allele Identifier: CA2036266827

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913106_51913114delinsTGTGAAGCC , CM000674.2:g.51913106_51913114delinsTGTGAAGCC	GRCh38
NC_000012.11:g.52306890_52306898delinsTGTGAAGCC , CM000674.1:g.52306890_52306898delinsTGTGAAGCC	GRCh37
NC_000012.10:g.50593157_50593165delinsTGTGAAGCC	NCBI36
NG_009549.1:g.10689_10697delinsTGTGAAGCC , LRG_543:g.10689_10697delinsTGTGAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.111_119delinsTGTGAAGCC	ENSP00000446724.2:p.Pro37=
ENST00000551576.6:c.69_77delinsTGTGAAGCC	ENSP00000455848.2:p.Pro23=
ENST00000552678.2:c.69_77delinsTGTGAAGCC	ENSP00000457394.2:p.Pro23=
ENST00000388922.9:c.69_77delinsTGTGAAGCC MANE Select	ENSP00000373574.4:p.Pro23=
ENST00000388922.8:c.69_77delinsTGTGAAGCC	ENSP00000373574.4:p.Pro23=
ENST00000419526.6:c.103+571_103+579delinsTGTGAAGCC	ENSP00000392492.2:n.103+571_103+579delinsTGTGAAGCC
ENST00000547400.5:c.111_119delinsTGTGAAGCC	ENSP00000446724.1:p.Pro37=
ENST00000550683.5:c.111_119delinsTGTGAAGCC	ENSP00000447884.1:p.Pro37=
ENST00000551576.5:c.69_77delinsTGTGAAGCC	ENSP00000455848.1:p.Pro23=
NM_000020.2:c.69_77delinsTGTGAAGCC , LRG_543t1:c.69_77delinsTGTGAAGCC	NP_000011.2:p.Pro23=
NM_001077401.1:c.69_77delinsTGTGAAGCC	NP_001070869.1:p.Pro23=
XM_005269235.2:c.69_77delinsTGTGAAGCC	XP_005269292.1:p.Pro23=
XM_011539008.1:c.111_119delinsTGTGAAGCC	XP_011537310.1:p.Pro37=
NM_000020.3:c.69_77delinsTGTGAAGCC MANE Select	NP_000011.2:p.Pro23=
NM_001077401.2:c.69_77delinsTGTGAAGCC	NP_001070869.1:p.Pro23=