Canonical Allele Identifier: CA2618857050

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915093-CCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915102_51915154del , CM000674.2:g.51915102_51915154del	GRCh38
NC_000012.11:g.52308886_52308938del , CM000674.1:g.52308886_52308938del	GRCh37
NC_000012.10:g.50595153_50595205del	NCBI36
NG_009549.1:g.12685_12737del , LRG_543:g.12685_12737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.503-123_503-71del	ENSP00000446724.2:n.503-123_503-71del
ENST00000551576.6:c.773-123_773-71del	ENSP00000455848.2:n.773-123_773-71del
ENST00000552678.2:c.773-123_773-71del	ENSP00000457394.2:n.773-123_773-71del
ENST00000388922.9:c.773-123_773-71del MANE Select	ENSP00000373574.4:n.773-123_773-71del
ENST00000388922.8:c.773-123_773-71del	ENSP00000373574.4:n.773-123_773-71del
ENST00000419526.6:c.251-123_251-71del	ENSP00000392492.2:n.251-123_251-71del
ENST00000550683.5:c.815-123_815-71del	ENSP00000447884.1:n.815-123_815-71del
NM_000020.2:c.773-123_773-71del , LRG_543t1:c.773-123_773-71del	NP_000011.2:n.773-123_773-71del
NM_001077401.1:c.773-123_773-71del	NP_001070869.1:n.773-123_773-71del
XM_005269235.2:c.773-123_773-71del	XP_005269292.1:n.773-123_773-71del
XM_011539008.1:c.503-123_503-71del	XP_011537310.1:n.503-123_503-71del
XM_024449279.1:c.-17-123_-17-71del	XP_024305047.1:n.-17-123_-17-71del
NM_000020.3:c.773-123_773-71del MANE Select	NP_000011.2:n.773-123_773-71del
NM_001077401.2:c.773-123_773-71del	NP_001070869.1:n.773-123_773-71del