Canonical Allele Identifier: CA236362918

Gene: ACVRL1

Linked Data

• dbSNP Id: rs974688550
• MyVariant Identifiers: chr12:g.52307873_52307874insC (hg19) ; chr12:g.51914089_51914090insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914092dup , CM000674.2:g.51914092dup	GRCh38
NC_000012.11:g.52307876dup , CM000674.1:g.52307876dup	GRCh37
NC_000012.10:g.50594143dup	NCBI36
NG_009549.1:g.11675dup , LRG_543:g.11675dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-347dup	ENSP00000446724.2:n.356-347dup
ENST00000551576.6:c.625+19dup	ENSP00000455848.2:n.625+19dup
ENST00000552678.2:c.625+19dup	ENSP00000457394.2:n.625+19dup
ENST00000388922.9:c.625+19dup MANE Select	ENSP00000373574.4:n.625+19dup
ENST00000388922.8:c.625+19dup	ENSP00000373574.4:n.625+19dup
ENST00000419526.6:c.104-347dup	ENSP00000392492.2:n.104-347dup
ENST00000547400.5:c.356-347dup	ENSP00000446724.1:n.356-347dup
ENST00000550683.5:c.667+19dup	ENSP00000447884.1:n.667+19dup
NM_000020.2:c.625+19dup , LRG_543t1:c.625+19dup	NP_000011.2:n.625+19dup
NM_001077401.1:c.625+19dup	NP_001070869.1:n.625+19dup
XM_005269235.2:c.625+19dup	XP_005269292.1:n.625+19dup
XM_011539008.1:c.356-347dup	XP_011537310.1:n.356-347dup
XM_024449279.1:c.-165+322dup	XP_024305047.1:n.-165+322dup
NM_000020.3:c.625+19dup MANE Select	NP_000011.2:n.625+19dup
NM_001077401.2:c.625+19dup	NP_001070869.1:n.625+19dup