Canonical Allele Identifier: CA2549418449

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920969_51920970insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA , CM000674.2:g.51920969_51920970insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	GRCh38
NC_000012.11:g.52314753_52314754insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA , CM000674.1:g.52314753_52314754insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	GRCh37
NC_000012.10:g.50601020_50601021insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	NCBI36
NG_009549.1:g.18552_18553insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA , LRG_543:g.18552_18553insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	ENSP00000455848.2:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACA...
ENST00000388922.9:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA MANE Select	ENSP00000373574.4:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACA...
ENST00000388922.8:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	ENSP00000373574.4:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACA...
ENST00000419526.6:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	ENSP00000392492.2:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACA...
ENST00000550683.5:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	ENSP00000447884.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACA...
NM_000020.2:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA , LRG_543t1:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	NP_000011.2:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTA...
NM_001077401.1:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	NP_001070869.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCC...
XM_005269235.2:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	XP_005269292.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCC...
XM_011539008.1:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	XP_011537310.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCC...
XM_024449279.1:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	XP_024305047.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCC...
NM_000020.3:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA MANE Select	NP_000011.2:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTA...
NM_001077401.2:c.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCCTTAAAAGTGCCCATACGTTTAAACATTTCGTCCCAATCAACAAGGTCTCCATTAAATTCAGGACCATCAATACATACA	NP_001070869.1:n.*76_*77insTTGTTTTCTCTCCATCTCTTCACGTTCAACACCC...