Canonical Allele Identifier: CA2795983141

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916029_51916030insA , CM000674.2:g.51916029_51916030insA	GRCh38
NC_000012.11:g.52309813_52309814insA , CM000674.1:g.52309813_52309814insA	GRCh37
NC_000012.10:g.50596080_50596081insA	NCBI36
NG_009549.1:g.13612_13613insA , LRG_543:g.13612_13613insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.779-7_779-6insA	ENSP00000446724.2:n.779-7_779-6insA
ENST00000551576.6:c.1049-7_1049-6insA	ENSP00000455848.2:n.1049-7_1049-6insA
ENST00000552678.2:c.1049-7_1049-6insA	ENSP00000457394.2:n.1049-7_1049-6insA
ENST00000388922.9:c.1049-7_1049-6insA MANE Select	ENSP00000373574.4:n.1049-7_1049-6insA
ENST00000388922.8:c.1049-7_1049-6insA	ENSP00000373574.4:n.1049-7_1049-6insA
ENST00000419526.6:c.527-7_527-6insA	ENSP00000392492.2:n.527-7_527-6insA
ENST00000547632.1:n.317_318insA
ENST00000550683.5:c.1091-7_1091-6insA	ENSP00000447884.1:n.1091-7_1091-6insA
ENST00000552678.1:c.54-7_54-6insA
NM_000020.2:c.1049-7_1049-6insA , LRG_543t1:c.1049-7_1049-6insA	NP_000011.2:n.1049-7_1049-6insA
NM_001077401.1:c.1049-7_1049-6insA	NP_001070869.1:n.1049-7_1049-6insA
XM_005269235.2:c.1049-7_1049-6insA	XP_005269292.1:n.1049-7_1049-6insA
XM_011539008.1:c.779-7_779-6insA	XP_011537310.1:n.779-7_779-6insA
XM_024449279.1:c.260-7_260-6insA	XP_024305047.1:n.260-7_260-6insA
NM_000020.3:c.1049-7_1049-6insA MANE Select	NP_000011.2:n.1049-7_1049-6insA
NM_001077401.2:c.1049-7_1049-6insA	NP_001070869.1:n.1049-7_1049-6insA