Canonical Allele Identifier: CA2695216689

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913351_51913363del , CM000674.2:g.51913351_51913363del	GRCh38
NC_000012.11:g.52307135_52307147del , CM000674.1:g.52307135_52307147del	GRCh37
NC_000012.10:g.50593402_50593414del	NCBI36
NG_009549.1:g.10934_10946del , LRG_543:g.10934_10946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+1_355+13del
ENST00000551576.6:c.313+1_313+13del
ENST00000552678.2:c.313+1_313+13del
ENST00000388922.9:c.313+1_313+13del
ENST00000388922.8:c.313+1_313+13del
ENST00000419526.6:c.103+816_103+828del	ENSP00000392492.2:n.103+816_103+828del
ENST00000547400.5:c.355+1_355+13del
ENST00000550683.5:c.355+1_355+13del
NM_000020.2:c.313+1_313+13del , LRG_543t1:c.313+1_313+13del
NM_001077401.1:c.313+1_313+13del
XM_005269235.2:c.313+1_313+13del
XM_011539008.1:c.355+1_355+13del
XM_024449279.1:c.-377+1_-377+13del
NM_000020.3:c.313+1_313+13del
NM_001077401.2:c.313+1_313+13del