Canonical Allele Identifier: CA2695216705

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913770_51913771del , CM000674.2:g.51913770_51913771del	GRCh38
NC_000012.11:g.52307554_52307555del , CM000674.1:g.52307554_52307555del	GRCh37
NC_000012.10:g.50593821_50593822del	NCBI36
NG_009549.1:g.11353_11354del , LRG_543:g.11353_11354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+420_355+421del	ENSP00000446724.2:n.355+420_355+421del
ENST00000551576.6:c.525_525+1del
ENST00000552678.2:c.525_525+1del
ENST00000388922.9:c.525_525+1del
ENST00000388922.8:c.525_525+1del
ENST00000419526.6:c.104-669_104-668del	ENSP00000392492.2:n.104-669_104-668del
ENST00000547400.5:c.355+420_355+421del	ENSP00000446724.1:n.355+420_355+421del
ENST00000550683.5:c.567_567+1del
NM_000020.2:c.525_525+1del , LRG_543t1:c.525_525+1del
NM_001077401.1:c.525_525+1del
XM_005269235.2:c.525_525+1del
XM_011539008.1:c.355+420_355+421del	XP_011537310.1:n.355+420_355+421del
XM_024449279.1:c.-165_-165+1del
NM_000020.3:c.525_525+1del
NM_001077401.2:c.525_525+1del