Canonical Allele Identifier: CA2036236953

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916129_51916130delinsTG , CM000674.2:g.51916129_51916130delinsTG	GRCh38
NC_000012.11:g.52309913_52309914delinsTG , CM000674.1:g.52309913_52309914delinsTG	GRCh37
NC_000012.10:g.50596180_50596181delinsTG	NCBI36
NG_009549.1:g.13712_13713delinsTG , LRG_543:g.13712_13713delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.872_873delinsTG	ENSP00000446724.2:p.Leu291=
ENST00000551576.6:c.1142_1143delinsTG	ENSP00000455848.2:p.Leu381=
ENST00000552678.2:c.1142_1143delinsTG	ENSP00000457394.2:p.Leu381=
ENST00000388922.9:c.1142_1143delinsTG MANE Select	ENSP00000373574.4:p.Leu381=
ENST00000388922.8:c.1142_1143delinsTG	ENSP00000373574.4:p.Leu381=
ENST00000419526.6:c.620_621delinsTG	ENSP00000392492.2:p.Leu207=
ENST00000547632.1:n.417_418delinsTG
ENST00000550683.5:c.1184_1185delinsTG	ENSP00000447884.1:p.Leu395=
ENST00000552678.1:c.147_148delinsTG
NM_000020.2:c.1142_1143delinsTG , LRG_543t1:c.1142_1143delinsTG	NP_000011.2:p.Leu381=
NM_001077401.1:c.1142_1143delinsTG	NP_001070869.1:p.Leu381=
XM_005269235.2:c.1142_1143delinsTG	XP_005269292.1:p.Leu381=
XM_011539008.1:c.872_873delinsTG	XP_011537310.1:p.Leu291=
XM_024449279.1:c.353_354delinsTG	XP_024305047.1:p.Leu118=
NM_000020.3:c.1142_1143delinsTG MANE Select	NP_000011.2:p.Leu381=
NM_001077401.2:c.1142_1143delinsTG	NP_001070869.1:p.Leu381=