Canonical Allele Identifier: CA2618860284

Gene: ACVRL1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920734_51920738del , CM000674.2:g.51920734_51920738del	GRCh38
NC_000012.11:g.52314518_52314522del , CM000674.1:g.52314518_52314522del	GRCh37
NC_000012.10:g.50600785_50600789del	NCBI36
NG_009549.1:g.18317_18321del , LRG_543:g.18317_18321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-25_1108-21del	ENSP00000446724.2:n.1108-25_1108-21del
ENST00000551576.6:c.1378-25_1378-21del	ENSP00000455848.2:n.1378-25_1378-21del
ENST00000388922.9:c.1378-25_1378-21del MANE Select	ENSP00000373574.4:n.1378-25_1378-21del
ENST00000388922.8:c.1378-25_1378-21del	ENSP00000373574.4:n.1378-25_1378-21del
ENST00000419526.6:c.856-25_856-21del	ENSP00000392492.2:n.856-25_856-21del
ENST00000550683.5:c.1420-25_1420-21del	ENSP00000447884.1:n.1420-25_1420-21del
NM_000020.2:c.1378-25_1378-21del , LRG_543t1:c.1378-25_1378-21del	NP_000011.2:n.1378-25_1378-21del
NM_001077401.1:c.1378-25_1378-21del	NP_001070869.1:n.1378-25_1378-21del
XM_005269235.2:c.1378-25_1378-21del	XP_005269292.1:n.1378-25_1378-21del
XM_011539008.1:c.1108-25_1108-21del	XP_011537310.1:n.1108-25_1108-21del
XM_024449279.1:c.589-25_589-21del	XP_024305047.1:n.589-25_589-21del
NM_000020.3:c.1378-25_1378-21del MANE Select	NP_000011.2:n.1378-25_1378-21del
NM_001077401.2:c.1378-25_1378-21del	NP_001070869.1:n.1378-25_1378-21del