Canonical Allele Identifier: CA2036267896

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913684_51913687delinsCAGG , CM000674.2:g.51913684_51913687delinsCAGG	GRCh38
NC_000012.11:g.52307468_52307471delinsCAGG , CM000674.1:g.52307468_52307471delinsCAGG	GRCh37
NC_000012.10:g.50593735_50593738delinsCAGG	NCBI36
NG_009549.1:g.11267_11270delinsCAGG , LRG_543:g.11267_11270delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+334_355+337delinsCAGG	ENSP00000446724.2:n.355+334_355+337delinsCAGG
ENST00000551576.6:c.439_442delinsCAGG	ENSP00000455848.2:p.Gln147=
ENST00000552678.2:c.439_442delinsCAGG	ENSP00000457394.2:p.Gln147=
ENST00000388922.9:c.439_442delinsCAGG MANE Select	ENSP00000373574.4:p.Gln147=
ENST00000388922.8:c.439_442delinsCAGG	ENSP00000373574.4:p.Gln147=
ENST00000419526.6:c.104-755_104-752delinsCAGG	ENSP00000392492.2:n.104-755_104-752delinsCAGG
ENST00000547400.5:c.355+334_355+337delinsCAGG	ENSP00000446724.1:n.355+334_355+337delinsCAGG
ENST00000550683.5:c.481_484delinsCAGG	ENSP00000447884.1:p.Gln161=
NM_000020.2:c.439_442delinsCAGG , LRG_543t1:c.439_442delinsCAGG	NP_000011.2:p.Gln147=
NM_001077401.1:c.439_442delinsCAGG	NP_001070869.1:p.Gln147=
XM_005269235.2:c.439_442delinsCAGG	XP_005269292.1:p.Gln147=
XM_011539008.1:c.355+334_355+337delinsCAGG	XP_011537310.1:n.355+334_355+337delinsCAGG
XM_024449279.1:c.-251_-248delinsCAGG	XP_024305047.1:n.-251_-248delinsCAGG
NM_000020.3:c.439_442delinsCAGG MANE Select	NP_000011.2:p.Gln147=
NM_001077401.2:c.439_442delinsCAGG	NP_001070869.1:p.Gln147=