Canonical Allele Identifier: CA605238843

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1178784027
• gnomAD v2: 12-52309202-C-CCGTATCATTA
• MyVariant Identifiers: chr12:g.52309202_52309203insCGTATCATTA (hg19) ; chr12:g.51915418_51915419insCGTATCATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915418_51915419insCGTATCATTA , CM000674.2:g.51915418_51915419insCGTATCATTA	GRCh38
NC_000012.11:g.52309202_52309203insCGTATCATTA , CM000674.1:g.52309202_52309203insCGTATCATTA	GRCh37
NC_000012.10:g.50595469_50595470insCGTATCATTA	NCBI36
NG_009549.1:g.13001_13002insCGTATCATTA , LRG_543:g.13001_13002insCGTATCATTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.696_697insCGTATCATTA	ENSP00000446724.2:p.Lys233ArgfsTer?
ENST00000551576.6:c.966_967insCGTATCATTA	ENSP00000455848.2:p.Lys323ArgfsTer?
ENST00000552678.2:c.966_967insCGTATCATTA	ENSP00000457394.2:p.Lys323ArgfsTer?
ENST00000388922.9:c.966_967insCGTATCATTA MANE Select	ENSP00000373574.4:p.Lys323ArgfsTer?
ENST00000388922.8:c.966_967insCGTATCATTA	ENSP00000373574.4:p.Lys323ArgfsTer?
ENST00000419526.6:c.444_445insCGTATCATTA	ENSP00000392492.2:p.Lys149ArgfsTer?
ENST00000550683.5:c.1008_1009insCGTATCATTA	ENSP00000447884.1:p.Lys337ArgfsTer?
NM_000020.2:c.966_967insCGTATCATTA , LRG_543t1:c.966_967insCGTATCATTA	NP_000011.2:p.Lys323ArgfsTer?
NM_001077401.1:c.966_967insCGTATCATTA	NP_001070869.1:p.Lys323ArgfsTer?
XM_005269235.2:c.966_967insCGTATCATTA	XP_005269292.1:p.Lys323ArgfsTer?
XM_011539008.1:c.696_697insCGTATCATTA	XP_011537310.1:p.Lys233ArgfsTer?
XM_024449279.1:c.177_178insCGTATCATTA	XP_024305047.1:p.Lys60ArgfsTer?
NM_000020.3:c.966_967insCGTATCATTA MANE Select	NP_000011.2:p.Lys323ArgfsTer?
NM_001077401.2:c.966_967insCGTATCATTA	NP_001070869.1:p.Lys323ArgfsTer?