Canonical Allele Identifier: CA2036242359

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921196_51921198delinsCAG , CM000674.2:g.51921196_51921198delinsCAG	GRCh38
NC_000012.11:g.52314980_52314982delinsCAG , CM000674.1:g.52314980_52314982delinsCAG	GRCh37
NC_000012.10:g.50601247_50601249delinsCAG	NCBI36
NG_009549.1:g.18779_18781delinsCAG , LRG_543:g.18779_18781delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*303_*305delinsCAG	ENSP00000455848.2:n.*303_*305delinsCAG
ENST00000388922.9:c.*303_*305delinsCAG MANE Select	ENSP00000373574.4:n.*303_*305delinsCAG
ENST00000550683.5:c.*303_*305delinsCAG	ENSP00000447884.1:n.*303_*305delinsCAG
NM_000020.2:c.*303_*305delinsCAG , LRG_543t1:c.*303_*305delinsCAG	NP_000011.2:n.*303_*305delinsCAG
NM_001077401.1:c.*303_*305delinsCAG	NP_001070869.1:n.*303_*305delinsCAG
XM_005269235.2:c.*303_*305delinsCAG	XP_005269292.1:n.*303_*305delinsCAG
XM_011539008.1:c.*303_*305delinsCAG	XP_011537310.1:n.*303_*305delinsCAG
XM_024449279.1:c.*303_*305delinsCAG	XP_024305047.1:n.*303_*305delinsCAG
NM_000020.3:c.*303_*305delinsCAG MANE Select	NP_000011.2:n.*303_*305delinsCAG
NM_001077401.2:c.*303_*305delinsCAG	NP_001070869.1:n.*303_*305delinsCAG