Canonical Allele Identifier: CA2795983318

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913326_51913327insCCCAACCAAACACACCCAAC , CM000674.2:g.51913326_51913327insCCCAACCAAACACACCCAAC	GRCh38
NC_000012.11:g.52307110_52307111insCCCAACCAAACACACCCAAC , CM000674.1:g.52307110_52307111insCCCAACCAAACACACCCAAC	GRCh37
NC_000012.10:g.50593377_50593378insCCCAACCAAACACACCCAAC	NCBI36
NG_009549.1:g.10909_10910insCCCAACCAAACACACCCAAC , LRG_543:g.10909_10910insCCCAACCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.331_332insCCCAACCAAACACACCCAAC	ENSP00000446724.2:p.His111ProfsTer?
ENST00000551576.6:c.289_290insCCCAACCAAACACACCCAAC	ENSP00000455848.2:p.His97ProfsTer32
ENST00000552678.2:c.289_290insCCCAACCAAACACACCCAAC	ENSP00000457394.2:p.His97ProfsTer32
ENST00000388922.9:c.289_290insCCCAACCAAACACACCCAAC MANE Select	ENSP00000373574.4:p.His97ProfsTer32
ENST00000388922.8:c.289_290insCCCAACCAAACACACCCAAC	ENSP00000373574.4:p.His97ProfsTer32
ENST00000419526.6:c.103+791_103+792insCCCAACCAAACACACCCAAC	ENSP00000392492.2:n.103+791_103+792insCCCAACCAAACACACCCAAC
ENST00000547400.5:c.331_332insCCCAACCAAACACACCCAAC	ENSP00000446724.1:p.His111ProfsTer?
ENST00000550683.5:c.331_332insCCCAACCAAACACACCCAAC	ENSP00000447884.1:p.His111ProfsTer32
NM_000020.2:c.289_290insCCCAACCAAACACACCCAAC , LRG_543t1:c.289_290insCCCAACCAAACACACCCAAC	NP_000011.2:p.His97ProfsTer32
NM_001077401.1:c.289_290insCCCAACCAAACACACCCAAC	NP_001070869.1:p.His97ProfsTer32
XM_005269235.2:c.289_290insCCCAACCAAACACACCCAAC	XP_005269292.1:p.His97ProfsTer32
XM_011539008.1:c.331_332insCCCAACCAAACACACCCAAC	XP_011537310.1:p.His111ProfsTer?
XM_024449279.1:c.-401_-400insCCCAACCAAACACACCCAAC	XP_024305047.1:n.-401_-400insCCCAACCAAACACACCCAAC
NM_000020.3:c.289_290insCCCAACCAAACACACCCAAC MANE Select	NP_000011.2:p.His97ProfsTer32
NM_001077401.2:c.289_290insCCCAACCAAACACACCCAAC	NP_001070869.1:p.His97ProfsTer32