Canonical Allele Identifier: CA2795983134

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915973_51915987del , CM000674.2:g.51915973_51915987del	GRCh38
NC_000012.11:g.52309757_52309771del , CM000674.1:g.52309757_52309771del	GRCh37
NC_000012.10:g.50596024_50596038del	NCBI36
NG_009549.1:g.13556_13570del , LRG_543:g.13556_13570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.779-63_779-49del	ENSP00000446724.2:n.779-63_779-49del
ENST00000551576.6:c.1049-63_1049-49del	ENSP00000455848.2:n.1049-63_1049-49del
ENST00000552678.2:c.1049-63_1049-49del	ENSP00000457394.2:n.1049-63_1049-49del
ENST00000388922.9:c.1049-63_1049-49del MANE Select	ENSP00000373574.4:n.1049-63_1049-49del
ENST00000388922.8:c.1049-63_1049-49del	ENSP00000373574.4:n.1049-63_1049-49del
ENST00000419526.6:c.527-63_527-49del	ENSP00000392492.2:n.527-63_527-49del
ENST00000547632.1:n.261_275del
ENST00000550683.5:c.1091-63_1091-49del	ENSP00000447884.1:n.1091-63_1091-49del
ENST00000552678.1:c.54-63_54-49del
NM_000020.2:c.1049-63_1049-49del , LRG_543t1:c.1049-63_1049-49del	NP_000011.2:n.1049-63_1049-49del
NM_001077401.1:c.1049-63_1049-49del	NP_001070869.1:n.1049-63_1049-49del
XM_005269235.2:c.1049-63_1049-49del	XP_005269292.1:n.1049-63_1049-49del
XM_011539008.1:c.779-63_779-49del	XP_011537310.1:n.779-63_779-49del
XM_024449279.1:c.260-63_260-49del	XP_024305047.1:n.260-63_260-49del
NM_000020.3:c.1049-63_1049-49del MANE Select	NP_000011.2:n.1049-63_1049-49del
NM_001077401.2:c.1049-63_1049-49del	NP_001070869.1:n.1049-63_1049-49del