Canonical Allele Identifier: CA2036265784

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912066_51912067delinsCA , CM000674.2:g.51912066_51912067delinsCA	GRCh38
NC_000012.11:g.52305850_52305851delinsCA , CM000674.1:g.52305850_52305851delinsCA	GRCh37
NC_000012.10:g.50592117_50592118delinsCA	NCBI36
NG_009549.1:g.9649_9650delinsCA , LRG_543:g.9649_9650delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-404_-5-403delinsCA	ENSP00000455848.2:n.-5-404_-5-403delinsCA
ENST00000552678.2:c.-5-404_-5-403delinsCA	ENSP00000457394.2:n.-5-404_-5-403delinsCA
ENST00000388922.9:c.-5-404_-5-403delinsCA MANE Select	ENSP00000373574.4:n.-5-404_-5-403delinsCA
ENST00000388922.8:c.-5-404_-5-403delinsCA	ENSP00000373574.4:n.-5-404_-5-403delinsCA
ENST00000551576.5:c.-5-404_-5-403delinsCA	ENSP00000455848.1:n.-5-404_-5-403delinsCA
NM_000020.2:c.-5-404_-5-403delinsCA , LRG_543t1:c.-5-404_-5-403delinsCA	NP_000011.2:n.-5-404_-5-403delinsCA
XM_005269235.2:c.-5-404_-5-403delinsCA	XP_005269292.1:n.-5-404_-5-403delinsCA
NM_000020.3:c.-5-404_-5-403delinsCA MANE Select	NP_000011.2:n.-5-404_-5-403delinsCA