Canonical Allele Identifier: CA689765109

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1282291747
• MyVariant Identifiers: chr12:g.52307853_52307854insGTGGGTGAGCA (hg19) ; chr12:g.51914069_51914070insGTGGGTGAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914080_51914090dup , CM000674.2:g.51914080_51914090dup	GRCh38
NC_000012.11:g.52307864_52307874dup , CM000674.1:g.52307864_52307874dup	GRCh37
NC_000012.10:g.50594131_50594141dup	NCBI36
NG_009549.1:g.11663_11673dup , LRG_543:g.11663_11673dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-359_356-349dup	ENSP00000446724.2:n.356-359_356-349dup
ENST00000551576.6:c.625+7_625+17dup
ENST00000552678.2:c.625+7_625+17dup
ENST00000388922.9:c.625+7_625+17dup
ENST00000388922.8:c.625+7_625+17dup
ENST00000419526.6:c.104-359_104-349dup	ENSP00000392492.2:n.104-359_104-349dup
ENST00000547400.5:c.356-359_356-349dup	ENSP00000446724.1:n.356-359_356-349dup
ENST00000550683.5:c.667+7_667+17dup
NM_000020.2:c.625+7_625+17dup , LRG_543t1:c.625+7_625+17dup
NM_001077401.1:c.625+7_625+17dup
XM_005269235.2:c.625+7_625+17dup
XM_011539008.1:c.356-359_356-349dup	XP_011537310.1:n.356-359_356-349dup
XM_024449279.1:c.-165+310_-165+320dup	XP_024305047.1:n.-165+310_-165+320dup
NM_000020.3:c.625+7_625+17dup
NM_001077401.2:c.625+7_625+17dup