Canonical Allele Identifier: CA2036237192

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916237_51916238delinsAG , CM000674.2:g.51916237_51916238delinsAG	GRCh38
NC_000012.11:g.52310021_52310022delinsAG , CM000674.1:g.52310021_52310022delinsAG	GRCh37
NC_000012.10:g.50596288_50596289delinsAG	NCBI36
NG_009549.1:g.13820_13821delinsAG , LRG_543:g.13820_13821delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.976+4_976+5delinsAG	ENSP00000446724.2:n.976+4_976+5delinsAG
ENST00000551576.6:c.1246+4_1246+5delinsAG	ENSP00000455848.2:n.1246+4_1246+5delinsAG
ENST00000552678.2:c.1246+4_1246+5delinsAG	ENSP00000457394.2:n.1246+4_1246+5delinsAG
ENST00000388922.9:c.1246+4_1246+5delinsAG MANE Select	ENSP00000373574.4:n.1246+4_1246+5delinsAG
ENST00000388922.8:c.1246+4_1246+5delinsAG	ENSP00000373574.4:n.1246+4_1246+5delinsAG
ENST00000419526.6:c.724+4_724+5delinsAG	ENSP00000392492.2:n.724+4_724+5delinsAG
ENST00000547632.1:n.521+4_521+5delinsAG
ENST00000550683.5:c.1288+4_1288+5delinsAG	ENSP00000447884.1:n.1288+4_1288+5delinsAG
ENST00000552678.1:c.251+4_251+5delinsAG
NM_000020.2:c.1246+4_1246+5delinsAG , LRG_543t1:c.1246+4_1246+5delinsAG	NP_000011.2:n.1246+4_1246+5delinsAG
NM_001077401.1:c.1246+4_1246+5delinsAG	NP_001070869.1:n.1246+4_1246+5delinsAG
XM_005269235.2:c.1246+4_1246+5delinsAG	XP_005269292.1:n.1246+4_1246+5delinsAG
XM_011539008.1:c.976+4_976+5delinsAG	XP_011537310.1:n.976+4_976+5delinsAG
XM_024449279.1:c.457+4_457+5delinsAG	XP_024305047.1:n.457+4_457+5delinsAG
NM_000020.3:c.1246+4_1246+5delinsAG MANE Select	NP_000011.2:n.1246+4_1246+5delinsAG
NM_001077401.2:c.1246+4_1246+5delinsAG	NP_001070869.1:n.1246+4_1246+5delinsAG