Canonical Allele Identifier: CA2036236663

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916001_51916002delinsGA , CM000674.2:g.51916001_51916002delinsGA	GRCh38
NC_000012.11:g.52309785_52309786delinsGA , CM000674.1:g.52309785_52309786delinsGA	GRCh37
NC_000012.10:g.50596052_50596053delinsGA	NCBI36
NG_009549.1:g.13584_13585delinsGA , LRG_543:g.13584_13585delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.779-35_779-34delinsGA	ENSP00000446724.2:n.779-35_779-34delinsGA
ENST00000551576.6:c.1049-35_1049-34delinsGA	ENSP00000455848.2:n.1049-35_1049-34delinsGA
ENST00000552678.2:c.1049-35_1049-34delinsGA	ENSP00000457394.2:n.1049-35_1049-34delinsGA
ENST00000388922.9:c.1049-35_1049-34delinsGA MANE Select	ENSP00000373574.4:n.1049-35_1049-34delinsGA
ENST00000388922.8:c.1049-35_1049-34delinsGA	ENSP00000373574.4:n.1049-35_1049-34delinsGA
ENST00000419526.6:c.527-35_527-34delinsGA	ENSP00000392492.2:n.527-35_527-34delinsGA
ENST00000547632.1:n.289_290delinsGA
ENST00000550683.5:c.1091-35_1091-34delinsGA	ENSP00000447884.1:n.1091-35_1091-34delinsGA
ENST00000552678.1:c.54-35_54-34delinsGA
NM_000020.2:c.1049-35_1049-34delinsGA , LRG_543t1:c.1049-35_1049-34delinsGA	NP_000011.2:n.1049-35_1049-34delinsGA
NM_001077401.1:c.1049-35_1049-34delinsGA	NP_001070869.1:n.1049-35_1049-34delinsGA
XM_005269235.2:c.1049-35_1049-34delinsGA	XP_005269292.1:n.1049-35_1049-34delinsGA
XM_011539008.1:c.779-35_779-34delinsGA	XP_011537310.1:n.779-35_779-34delinsGA
XM_024449279.1:c.260-35_260-34delinsGA	XP_024305047.1:n.260-35_260-34delinsGA
NM_000020.3:c.1049-35_1049-34delinsGA MANE Select	NP_000011.2:n.1049-35_1049-34delinsGA
NM_001077401.2:c.1049-35_1049-34delinsGA	NP_001070869.1:n.1049-35_1049-34delinsGA