Canonical Allele Identifier: CA2618856426

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912994-TTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912997_51913000del , CM000674.2:g.51912997_51913000del	GRCh38
NC_000012.11:g.52306781_52306784del , CM000674.1:g.52306781_52306784del	GRCh37
NC_000012.10:g.50593048_50593051del	NCBI36
NG_009549.1:g.10580_10583del , LRG_543:g.10580_10583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.104-102_104-99del	ENSP00000446724.2:n.104-102_104-99del
ENST00000551576.6:c.62-102_62-99del	ENSP00000455848.2:n.62-102_62-99del
ENST00000552678.2:c.62-102_62-99del	ENSP00000457394.2:n.62-102_62-99del
ENST00000388922.9:c.62-102_62-99del MANE Select	ENSP00000373574.4:n.62-102_62-99del
ENST00000388922.8:c.62-102_62-99del	ENSP00000373574.4:n.62-102_62-99del
ENST00000419526.6:c.103+462_103+465del	ENSP00000392492.2:n.103+462_103+465del
ENST00000547400.5:c.104-102_104-99del	ENSP00000446724.1:n.104-102_104-99del
ENST00000550683.5:c.104-102_104-99del	ENSP00000447884.1:n.104-102_104-99del
ENST00000551576.5:c.62-102_62-99del	ENSP00000455848.1:n.62-102_62-99del
NM_000020.2:c.62-102_62-99del , LRG_543t1:c.62-102_62-99del	NP_000011.2:n.62-102_62-99del
NM_001077401.1:c.62-102_62-99del	NP_001070869.1:n.62-102_62-99del
XM_005269235.2:c.62-102_62-99del	XP_005269292.1:n.62-102_62-99del
XM_011539008.1:c.104-102_104-99del	XP_011537310.1:n.104-102_104-99del
NM_000020.3:c.62-102_62-99del MANE Select	NP_000011.2:n.62-102_62-99del
NM_001077401.2:c.62-102_62-99del	NP_001070869.1:n.62-102_62-99del