Canonical Allele Identifier: CA2695216678

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913242_51913246dup , CM000674.2:g.51913242_51913246dup	GRCh38
NC_000012.11:g.52307026_52307030dup , CM000674.1:g.52307026_52307030dup	GRCh37
NC_000012.10:g.50593293_50593297dup	NCBI36
NG_009549.1:g.10825_10829dup , LRG_543:g.10825_10829dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.247_251dup	ENSP00000446724.2:p.Asn85AlafsTer?
ENST00000551576.6:c.205_209dup	ENSP00000455848.2:p.Asn71AlafsTer?
ENST00000552678.2:c.205_209dup	ENSP00000457394.2:p.Asn71AlafsTer?
ENST00000388922.9:c.205_209dup MANE Select	ENSP00000373574.4:p.Asn71AlafsTer?
ENST00000388922.8:c.205_209dup	ENSP00000373574.4:p.Asn71AlafsTer?
ENST00000419526.6:c.103+707_103+711dup	ENSP00000392492.2:n.103+707_103+711dup
ENST00000547400.5:c.247_251dup	ENSP00000446724.1:p.Asn85AlafsTer?
ENST00000550683.5:c.247_251dup	ENSP00000447884.1:p.Asn85AlafsTer?
ENST00000551576.5:c.205_209dup	ENSP00000455848.1:p.Asn71AlafsTer?
NM_000020.2:c.205_209dup , LRG_543t1:c.205_209dup	NP_000011.2:p.Asn71AlafsTer?
NM_001077401.1:c.205_209dup	NP_001070869.1:p.Asn71AlafsTer?
XM_005269235.2:c.205_209dup	XP_005269292.1:p.Asn71AlafsTer?
XM_011539008.1:c.247_251dup	XP_011537310.1:p.Asn85AlafsTer?
NM_000020.3:c.205_209dup MANE Select	NP_000011.2:p.Asn71AlafsTer?
NM_001077401.2:c.205_209dup	NP_001070869.1:p.Asn71AlafsTer?