Canonical Allele Identifier: CA2036268563

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914167_51914168delinsGC , CM000674.2:g.51914167_51914168delinsGC	GRCh38
NC_000012.11:g.52307951_52307952delinsGC , CM000674.1:g.52307951_52307952delinsGC	GRCh37
NC_000012.10:g.50594218_50594219delinsGC	NCBI36
NG_009549.1:g.11750_11751delinsGC , LRG_543:g.11750_11751delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-272_356-271delinsGC	ENSP00000446724.2:n.356-272_356-271delins...
ENST00000551576.6:c.625+94_625+95delinsGC	ENSP00000455848.2:n.625+94_625+95delinsGC...
ENST00000552678.2:c.625+94_625+95delinsGC	ENSP00000457394.2:n.625+94_625+95delinsGC...
ENST00000388922.9:c.625+94_625+95delinsGC MANE Select	ENSP00000373574.4:n.625+94_625+95delinsGC...
ENST00000388922.8:c.625+94_625+95delinsGC	ENSP00000373574.4:n.625+94_625+95delinsGC...
ENST00000419526.6:c.104-272_104-271delinsGC	ENSP00000392492.2:n.104-272_104-271delins...
ENST00000547400.5:c.356-272_356-271delinsGC	ENSP00000446724.1:n.356-272_356-271delins...
ENST00000550683.5:c.667+94_667+95delinsGC	ENSP00000447884.1:n.667+94_667+95delinsGC...
NM_000020.2:c.625+94_625+95delinsGC , LRG_543t1:c.625+94_625+95delinsGC	NP_000011.2:n.625+94_625+95delinsGC
NM_001077401.1:c.625+94_625+95delinsGC	NP_001070869.1:n.625+94_625+95delinsGC
XM_005269235.2:c.625+94_625+95delinsGC	XP_005269292.1:n.625+94_625+95delinsGC
XM_011539008.1:c.356-272_356-271delinsGC	XP_011537310.1:n.356-272_356-271delinsGC
XM_024449279.1:c.-164-272_-164-271delinsGC	XP_024305047.1:n.-164-272_-164-271delinsG...
NM_000020.3:c.625+94_625+95delinsGC MANE Select	NP_000011.2:n.625+94_625+95delinsGC
NM_001077401.2:c.625+94_625+95delinsGC	NP_001070869.1:n.625+94_625+95delinsGC