Canonical Allele Identifier: CA658656306

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 464770
• ClinVar RCV Id: RCV000525583
• dbSNP Id: rs1555153071

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915218_51915219delinsTC , CM000674.2:g.51915218_51915219delinsTC	GRCh38
NC_000012.11:g.52309002_52309003delinsTC , CM000674.1:g.52309002_52309003delinsTC	GRCh37
NC_000012.10:g.50595269_50595270delinsTC	NCBI36
NG_009549.1:g.12801_12802delinsTC , LRG_543:g.12801_12802delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.503-7_503-6delinsTC	ENSP00000446724.2:n.503-7_503-6delinsTC
ENST00000551576.6:c.773-7_773-6delinsTC	ENSP00000455848.2:n.773-7_773-6delinsTC
ENST00000552678.2:c.773-7_773-6delinsTC	ENSP00000457394.2:n.773-7_773-6delinsTC
ENST00000388922.9:c.773-7_773-6delinsTC MANE Select	ENSP00000373574.4:n.773-7_773-6delinsTC
ENST00000388922.8:c.773-7_773-6delinsTC	ENSP00000373574.4:n.773-7_773-6delinsTC
ENST00000419526.6:c.251-7_251-6delinsTC	ENSP00000392492.2:n.251-7_251-6delinsTC
ENST00000550683.5:c.815-7_815-6delinsTC	ENSP00000447884.1:n.815-7_815-6delinsTC
NM_000020.2:c.773-7_773-6delinsTC , LRG_543t1:c.773-7_773-6delinsTC	NP_000011.2:n.773-7_773-6delinsTC
NM_001077401.1:c.773-7_773-6delinsTC	NP_001070869.1:n.773-7_773-6delinsTC
XM_005269235.2:c.773-7_773-6delinsTC	XP_005269292.1:n.773-7_773-6delinsTC
XM_011539008.1:c.503-7_503-6delinsTC	XP_011537310.1:n.503-7_503-6delinsTC
XM_024449279.1:c.-17-7_-17-6delinsTC	XP_024305047.1:n.-17-7_-17-6delinsTC
NM_000020.3:c.773-7_773-6delinsTC MANE Select	NP_000011.2:n.773-7_773-6delinsTC
NM_001077401.2:c.773-7_773-6delinsTC	NP_001070869.1:n.773-7_773-6delinsTC