Canonical Allele Identifier: CA2036269486

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915367_51915368delinsCG , CM000674.2:g.51915367_51915368delinsCG	GRCh38
NC_000012.11:g.52309151_52309152delinsCG , CM000674.1:g.52309151_52309152delinsCG	GRCh37
NC_000012.10:g.50595418_50595419delinsCG	NCBI36
NG_009549.1:g.12950_12951delinsCG , LRG_543:g.12950_12951delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.645_646delinsCG	ENSP00000446724.2:p.Ser215=
ENST00000551576.6:c.915_916delinsCG	ENSP00000455848.2:p.Ser305=
ENST00000552678.2:c.915_916delinsCG	ENSP00000457394.2:p.Ser305=
ENST00000388922.9:c.915_916delinsCG MANE Select	ENSP00000373574.4:p.Ser305=
ENST00000388922.8:c.915_916delinsCG	ENSP00000373574.4:p.Ser305=
ENST00000419526.6:c.393_394delinsCG	ENSP00000392492.2:p.Ser131=
ENST00000550683.5:c.957_958delinsCG	ENSP00000447884.1:p.Ser319=
NM_000020.2:c.915_916delinsCG , LRG_543t1:c.915_916delinsCG	NP_000011.2:p.Ser305=
NM_001077401.1:c.915_916delinsCG	NP_001070869.1:p.Ser305=
XM_005269235.2:c.915_916delinsCG	XP_005269292.1:p.Ser305=
XM_011539008.1:c.645_646delinsCG	XP_011537310.1:p.Ser215=
XM_024449279.1:c.126_127delinsCG	XP_024305047.1:p.Ser42=
NM_000020.3:c.915_916delinsCG MANE Select	NP_000011.2:p.Ser305=
NM_001077401.2:c.915_916delinsCG	NP_001070869.1:p.Ser305=