Canonical Allele Identifier: CA605238841

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1422962517
• gnomAD v2: 12-52309193-TACACA-T
• MyVariant Identifiers: chr12:g.52309194_52309198del (hg19) ; chr12:g.51915410_51915414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915410_51915414del , CM000674.2:g.51915410_51915414del	GRCh38
NC_000012.11:g.52309194_52309198del , CM000674.1:g.52309194_52309198del	GRCh37
NC_000012.10:g.50595461_50595465del	NCBI36
NG_009549.1:g.12993_12997del , LRG_543:g.12993_12997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.688_692del	ENSP00000446724.2:p.Thr230GlyfsTer?
ENST00000551576.6:c.958_962del	ENSP00000455848.2:p.Thr320GlyfsTer?
ENST00000552678.2:c.958_962del	ENSP00000457394.2:p.Thr320GlyfsTer?
ENST00000388922.9:c.958_962del MANE Select	ENSP00000373574.4:p.Thr320GlyfsTer?
ENST00000388922.8:c.958_962del	ENSP00000373574.4:p.Thr320GlyfsTer?
ENST00000419526.6:c.436_440del	ENSP00000392492.2:p.Thr146GlyfsTer?
ENST00000550683.5:c.1000_1004del	ENSP00000447884.1:p.Thr334GlyfsTer?
NM_000020.2:c.958_962del , LRG_543t1:c.958_962del	NP_000011.2:p.Thr320GlyfsTer?
NM_001077401.1:c.958_962del	NP_001070869.1:p.Thr320GlyfsTer?
XM_005269235.2:c.958_962del	XP_005269292.1:p.Thr320GlyfsTer?
XM_011539008.1:c.688_692del	XP_011537310.1:p.Thr230GlyfsTer?
XM_024449279.1:c.169_173del	XP_024305047.1:p.Thr57GlyfsTer?
NM_000020.3:c.958_962del MANE Select	NP_000011.2:p.Thr320GlyfsTer?
NM_001077401.2:c.958_962del	NP_001070869.1:p.Thr320GlyfsTer?