Canonical Allele Identifier: CA2036236385

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915649_51915650delinsGT , CM000674.2:g.51915649_51915650delinsGT	GRCh38
NC_000012.11:g.52309433_52309434delinsGT , CM000674.1:g.52309433_52309434delinsGT	GRCh37
NC_000012.10:g.50595700_50595701delinsGT	NCBI36
NG_009549.1:g.13232_13233delinsGT , LRG_543:g.13232_13233delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+149_778+150delinsGT	ENSP00000446724.2:n.778+149_778+150delinsGT
ENST00000551576.6:c.1048+149_1048+150delinsGT	ENSP00000455848.2:n.1048+149_1048+150delinsGT
ENST00000552678.2:c.1048+149_1048+150delinsGT	ENSP00000457394.2:n.1048+149_1048+150delinsGT
ENST00000388922.9:c.1048+149_1048+150delinsGT MANE Select	ENSP00000373574.4:n.1048+149_1048+150delinsGT
ENST00000388922.8:c.1048+149_1048+150delinsGT	ENSP00000373574.4:n.1048+149_1048+150delinsGT
ENST00000419526.6:c.526+149_526+150delinsGT	ENSP00000392492.2:n.526+149_526+150delinsGT
ENST00000550683.5:c.1090+149_1090+150delinsGT	ENSP00000447884.1:n.1090+149_1090+150delinsGT
ENST00000552678.1:c.53+149_53+150delinsGT
NM_000020.2:c.1048+149_1048+150delinsGT , LRG_543t1:c.1048+149_1048+150delinsGT	NP_000011.2:n.1048+149_1048+150delinsGT
NM_001077401.1:c.1048+149_1048+150delinsGT	NP_001070869.1:n.1048+149_1048+150delinsGT
XM_005269235.2:c.1048+149_1048+150delinsGT	XP_005269292.1:n.1048+149_1048+150delinsGT
XM_011539008.1:c.778+149_778+150delinsGT	XP_011537310.1:n.778+149_778+150delinsGT
XM_024449279.1:c.259+149_259+150delinsGT	XP_024305047.1:n.259+149_259+150delinsGT
NM_000020.3:c.1048+149_1048+150delinsGT MANE Select	NP_000011.2:n.1048+149_1048+150delinsGT
NM_001077401.2:c.1048+149_1048+150delinsGT	NP_001070869.1:n.1048+149_1048+150delinsGT