Canonical Allele Identifier: CA236361178

Gene: ACVRL1

Linked Data

• dbSNP Id: rs375347093
• MyVariant Identifiers: chr12:g.52306206_52306207insG (hg19) ; chr12:g.51912422_51912423insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912423dup , CM000674.2:g.51912423dup	GRCh38
NC_000012.11:g.52306207dup , CM000674.1:g.52306207dup	GRCh37
NC_000012.10:g.50592474dup	NCBI36
NG_009549.1:g.10006dup , LRG_543:g.10006dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.-10dup	ENSP00000446724.2:n.-10dup
ENST00000551576.6:c.-5-47dup	ENSP00000455848.2:n.-5-47dup
ENST00000552678.2:c.-5-47dup	ENSP00000457394.2:n.-5-47dup
ENST00000388922.9:c.-5-47dup MANE Select	ENSP00000373574.4:n.-5-47dup
ENST00000388922.8:c.-5-47dup	ENSP00000373574.4:n.-5-47dup
ENST00000419526.6:c.-10dup	ENSP00000392492.2:n.-10dup
ENST00000547400.5:c.-10dup	ENSP00000446724.1:n.-10dup
ENST00000550683.5:c.-10dup	ENSP00000447884.1:n.-10dup
ENST00000551576.5:c.-5-47dup	ENSP00000455848.1:n.-5-47dup
NM_000020.2:c.-5-47dup , LRG_543t1:c.-5-47dup	NP_000011.2:n.-5-47dup
NM_001077401.1:c.-52dup	NP_001070869.1:n.-52dup
XM_005269235.2:c.-5-47dup	XP_005269292.1:n.-5-47dup
XM_011539008.1:c.-10dup	XP_011537310.1:n.-10dup
NM_000020.3:c.-5-47dup MANE Select	NP_000011.2:n.-5-47dup
NM_001077401.2:c.-52dup	NP_001070869.1:n.-52dup