Canonical Allele Identifier: CA2036236719
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916041_51916042delinsGC , CM000674.2:g.51916041_51916042delinsGC GRCh38
NC_000012.11:g.52309825_52309826delinsGC , CM000674.1:g.52309825_52309826delinsGC GRCh37
NC_000012.10:g.50596092_50596093delinsGC NCBI36
NG_009549.1:g.13624_13625delinsGC , LRG_543:g.13624_13625delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.784_785delinsGC ENSP00000446724.2:p.Ala262=
ENST00000551576.6:c.1054_1055delinsGC ENSP00000455848.2:p.Ala352=
ENST00000552678.2:c.1054_1055delinsGC ENSP00000457394.2:p.Ala352=
ENST00000388922.9:c.1054_1055delinsGC MANE Select ENSP00000373574.4:p.Ala352=
ENST00000388922.8:c.1054_1055delinsGC ENSP00000373574.4:p.Ala352=
ENST00000419526.6:c.532_533delinsGC ENSP00000392492.2:p.Ala178=
ENST00000547632.1:n.329_330delinsGC
ENST00000550683.5:c.1096_1097delinsGC ENSP00000447884.1:p.Ala366=
ENST00000552678.1:c.59_60delinsGC
NM_000020.2:c.1054_1055delinsGC , LRG_543t1:c.1054_1055delinsGC NP_000011.2:p.Ala352=
NM_001077401.1:c.1054_1055delinsGC NP_001070869.1:p.Ala352=
XM_005269235.2:c.1054_1055delinsGC XP_005269292.1:p.Ala352=
XM_011539008.1:c.784_785delinsGC XP_011537310.1:p.Ala262=
XM_024449279.1:c.265_266delinsGC XP_024305047.1:p.Ala89=
NM_000020.3:c.1054_1055delinsGC MANE Select NP_000011.2:p.Ala352=
NM_001077401.2:c.1054_1055delinsGC NP_001070869.1:p.Ala352=