Canonical Allele Identifier: CA2795983350

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913550dup , CM000674.2:g.51913550dup	GRCh38
NC_000012.11:g.52307334dup , CM000674.1:g.52307334dup	GRCh37
NC_000012.10:g.50593601dup	NCBI36
NG_009549.1:g.11133dup , LRG_543:g.11133dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+200dup	ENSP00000446724.2:n.355+200dup
ENST00000551576.6:c.314-9dup	ENSP00000455848.2:n.314-9dup
ENST00000552678.2:c.314-9dup	ENSP00000457394.2:n.314-9dup
ENST00000388922.9:c.314-9dup MANE Select	ENSP00000373574.4:n.314-9dup
ENST00000388922.8:c.314-9dup	ENSP00000373574.4:n.314-9dup
ENST00000419526.6:c.104-889dup	ENSP00000392492.2:n.104-889dup
ENST00000547400.5:c.355+200dup	ENSP00000446724.1:n.355+200dup
ENST00000550683.5:c.356-9dup	ENSP00000447884.1:n.356-9dup
NM_000020.2:c.314-9dup , LRG_543t1:c.314-9dup	NP_000011.2:n.314-9dup
NM_001077401.1:c.314-9dup	NP_001070869.1:n.314-9dup
XM_005269235.2:c.314-9dup	XP_005269292.1:n.314-9dup
XM_011539008.1:c.355+200dup	XP_011537310.1:n.355+200dup
XM_024449279.1:c.-376-9dup	XP_024305047.1:n.-376-9dup
NM_000020.3:c.314-9dup MANE Select	NP_000011.2:n.314-9dup
NM_001077401.2:c.314-9dup	NP_001070869.1:n.314-9dup