Canonical Allele Identifier: CA689770184

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1360669605
• MyVariant Identifiers: chr12:g.52314944_52314945insGTA (hg19) ; chr12:g.51921160_51921161insGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921160_51921161insGTA , CM000674.2:g.51921160_51921161insGTA	GRCh38
NC_000012.11:g.52314944_52314945insGTA , CM000674.1:g.52314944_52314945insGTA	GRCh37
NC_000012.10:g.50601211_50601212insGTA	NCBI36
NG_009549.1:g.18743_18744insGTA , LRG_543:g.18743_18744insGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*267_*268insGTA	ENSP00000455848.2:n.*267_*268insGTA
ENST00000388922.9:c.*267_*268insGTA MANE Select	ENSP00000373574.4:n.*267_*268insGTA
ENST00000419526.6:c.*267_*268insGTA	ENSP00000392492.2:n.*267_*268insGTA
ENST00000550683.5:c.*267_*268insGTA	ENSP00000447884.1:n.*267_*268insGTA
NM_000020.2:c.*267_*268insGTA , LRG_543t1:c.*267_*268insGTA	NP_000011.2:n.*267_*268insGTA
NM_001077401.1:c.*267_*268insGTA	NP_001070869.1:n.*267_*268insGTA
XM_005269235.2:c.*267_*268insGTA	XP_005269292.1:n.*267_*268insGTA
XM_011539008.1:c.*267_*268insGTA	XP_011537310.1:n.*267_*268insGTA
XM_024449279.1:c.*267_*268insGTA	XP_024305047.1:n.*267_*268insGTA
NM_000020.3:c.*267_*268insGTA MANE Select	NP_000011.2:n.*267_*268insGTA
NM_001077401.2:c.*267_*268insGTA	NP_001070869.1:n.*267_*268insGTA