Canonical Allele Identifier: CA2697554496

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2704790
• ClinVar RCV Id: RCV003510617

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915492_51915494dup , CM000674.2:g.51915492_51915494dup	GRCh38
NC_000012.11:g.52309276_52309278dup , CM000674.1:g.52309276_52309278dup	GRCh37
NC_000012.10:g.50595543_50595545dup	NCBI36
NG_009549.1:g.13075_13077dup , LRG_543:g.13075_13077dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.770_772dup	ENSP00000446724.2:p.Ala257_Asp258insAla
ENST00000551576.6:c.1040_1042dup	ENSP00000455848.2:p.Ala347_Asp348insAla
ENST00000552678.2:c.1040_1042dup	ENSP00000457394.2:p.Ala347_Asp348insAla
ENST00000388922.9:c.1040_1042dup MANE Select	ENSP00000373574.4:p.Ala347_Asp348insAla
ENST00000388922.8:c.1040_1042dup	ENSP00000373574.4:p.Ala347_Asp348insAla
ENST00000419526.6:c.518_520dup	ENSP00000392492.2:p.Ala173_Asp174insAla
ENST00000550683.5:c.1082_1084dup	ENSP00000447884.1:p.Ala361_Asp362insAla
ENST00000552678.1:c.45_47dup
NM_000020.2:c.1040_1042dup , LRG_543t1:c.1040_1042dup	NP_000011.2:p.Ala347_Asp348insAla
NM_001077401.1:c.1040_1042dup	NP_001070869.1:p.Ala347_Asp348insAla
XM_005269235.2:c.1040_1042dup	XP_005269292.1:p.Ala347_Asp348insAla
XM_011539008.1:c.770_772dup	XP_011537310.1:p.Ala257_Asp258insAla
XM_024449279.1:c.251_253dup	XP_024305047.1:p.Ala84_Asp85insAla
NM_000020.3:c.1040_1042dup MANE Select	NP_000011.2:p.Ala347_Asp348insAla
NM_001077401.2:c.1040_1042dup	NP_001070869.1:p.Ala347_Asp348insAla