Canonical Allele Identifier: CA605238839

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1387188862
• gnomAD v2: 12-52309139-G-GACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT
• MyVariant Identifiers: chr12:g.52309139_52309140insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (hg19) ; chr12:g.51915355_51915356insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915355_51915356insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT , CM000674.2:g.51915355_51915356insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	GRCh38
NC_000012.11:g.52309139_52309140insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT , CM000674.1:g.52309139_52309140insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	GRCh37
NC_000012.10:g.50595406_50595407insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	NCBI36
NG_009549.1:g.12938_12939insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT , LRG_543:g.12938_12939insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.633_634insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000446724.2:p.Arg211_Leu212insThrAlaProGlyIleGlnCysSerV...
ENST00000551576.6:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000455848.2:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerV...
ENST00000552678.2:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000457394.2:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerV...
ENST00000388922.9:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT MANE Select	ENSP00000373574.4:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerV...
ENST00000388922.8:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000373574.4:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerV...
ENST00000419526.6:c.381_382insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000392492.2:p.Arg127_Leu128insThrAlaProGlyIleGlnCysSerV...
ENST00000550683.5:c.945_946insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	ENSP00000447884.1:p.Arg315_Leu316insThrAlaProGlyIleGlnCysSerV...
NM_000020.2:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT , LRG_543t1:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	NP_000011.2:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValAsnI...
NM_001077401.1:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	NP_001070869.1:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValA...
XM_005269235.2:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	XP_005269292.1:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValA...
XM_011539008.1:c.633_634insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	XP_011537310.1:p.Arg211_Leu212insThrAlaProGlyIleGlnCysSerValA...
XM_024449279.1:c.114_115insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	XP_024305047.1:p.Arg38_Leu39insThrAlaProGlyIleGlnCysSerValAsn...
NM_000020.3:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT MANE Select	NP_000011.2:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValAsnI...
NM_001077401.2:c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT	NP_001070869.1:p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValA...