Canonical Allele Identifier: CA2618858567

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915614-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915619_51915621del , CM000674.2:g.51915619_51915621del	GRCh38
NC_000012.11:g.52309403_52309405del , CM000674.1:g.52309403_52309405del	GRCh37
NC_000012.10:g.50595670_50595672del	NCBI36
NG_009549.1:g.13202_13204del , LRG_543:g.13202_13204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+119_778+121del	ENSP00000446724.2:n.778+119_778+121del
ENST00000551576.6:c.1048+119_1048+121del	ENSP00000455848.2:n.1048+119_1048+121del
ENST00000552678.2:c.1048+119_1048+121del	ENSP00000457394.2:n.1048+119_1048+121del
ENST00000388922.9:c.1048+119_1048+121del MANE Select	ENSP00000373574.4:n.1048+119_1048+121del
ENST00000388922.8:c.1048+119_1048+121del	ENSP00000373574.4:n.1048+119_1048+121del
ENST00000419526.6:c.526+119_526+121del	ENSP00000392492.2:n.526+119_526+121del
ENST00000550683.5:c.1090+119_1090+121del	ENSP00000447884.1:n.1090+119_1090+121del
ENST00000552678.1:c.53+119_53+121del
NM_000020.2:c.1048+119_1048+121del , LRG_543t1:c.1048+119_1048+121del	NP_000011.2:n.1048+119_1048+121del
NM_001077401.1:c.1048+119_1048+121del	NP_001070869.1:n.1048+119_1048+121del
XM_005269235.2:c.1048+119_1048+121del	XP_005269292.1:n.1048+119_1048+121del
XM_011539008.1:c.778+119_778+121del	XP_011537310.1:n.778+119_778+121del
XM_024449279.1:c.259+119_259+121del	XP_024305047.1:n.259+119_259+121del
NM_000020.3:c.1048+119_1048+121del MANE Select	NP_000011.2:n.1048+119_1048+121del
NM_001077401.2:c.1048+119_1048+121del	NP_001070869.1:n.1048+119_1048+121del