Canonical Allele Identifier: CA689764426

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1454151446
• MyVariant Identifiers: chr12:g.52307405_52307406insTGATGGCCT (hg19) ; chr12:g.51913621_51913622insTGATGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913623_51913624insATGGCCTTG , CM000674.2:g.51913623_51913624insATGGCCTTG	GRCh38
NC_000012.11:g.52307407_52307408insATGGCCTTG , CM000674.1:g.52307407_52307408insATGGCCTTG	GRCh37
NC_000012.10:g.50593674_50593675insATGGCCTTG	NCBI36
NG_009549.1:g.11206_11207insATGGCCTTG , LRG_543:g.11206_11207insATGGCCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+273_355+274insATGGCCTTG	ENSP00000446724.2:n.355+273_355+274insATGGCCTTG
ENST00000551576.6:c.378_379insATGGCCTTG	ENSP00000455848.2:p.Val126_Leu127insMetAlaLeu
ENST00000552678.2:c.378_379insATGGCCTTG	ENSP00000457394.2:p.Val126_Leu127insMetAlaLeu
ENST00000388922.9:c.378_379insATGGCCTTG MANE Select	ENSP00000373574.4:p.Val126_Leu127insMetAlaLeu
ENST00000388922.8:c.378_379insATGGCCTTG	ENSP00000373574.4:p.Val126_Leu127insMetAlaLeu
ENST00000419526.6:c.104-816_104-815insATGGCCTTG	ENSP00000392492.2:n.104-816_104-815insATGGCCTTG
ENST00000547400.5:c.355+273_355+274insATGGCCTTG	ENSP00000446724.1:n.355+273_355+274insATGGCCTTG
ENST00000550683.5:c.420_421insATGGCCTTG	ENSP00000447884.1:p.Val140_Leu141insMetAlaLeu
NM_000020.2:c.378_379insATGGCCTTG , LRG_543t1:c.378_379insATGGCCTTG	NP_000011.2:p.Val126_Leu127insMetAlaLeu
NM_001077401.1:c.378_379insATGGCCTTG	NP_001070869.1:p.Val126_Leu127insMetAlaLeu
XM_005269235.2:c.378_379insATGGCCTTG	XP_005269292.1:p.Val126_Leu127insMetAlaLeu
XM_011539008.1:c.355+273_355+274insATGGCCTTG	XP_011537310.1:n.355+273_355+274insATGGCCTTG
XM_024449279.1:c.-312_-311insATGGCCTTG	XP_024305047.1:n.-312_-311insATGGCCTTG
NM_000020.3:c.378_379insATGGCCTTG MANE Select	NP_000011.2:p.Val126_Leu127insMetAlaLeu
NM_001077401.2:c.378_379insATGGCCTTG	NP_001070869.1:p.Val126_Leu127insMetAlaLeu