Canonical Allele Identifier: CA2575161364

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51913442-GCT-G
• gnomAD v4: 12-51913442-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913443_51913444del , CM000674.2:g.51913443_51913444del	GRCh38
NC_000012.11:g.52307227_52307228del , CM000674.1:g.52307227_52307228del	GRCh37
NC_000012.10:g.50593494_50593495del	NCBI36
NG_009549.1:g.11026_11027del , LRG_543:g.11026_11027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+93_355+94del	ENSP00000446724.2:n.355+93_355+94del
ENST00000551576.6:c.313+93_313+94del	ENSP00000455848.2:n.313+93_313+94del
ENST00000552678.2:c.313+93_313+94del	ENSP00000457394.2:n.313+93_313+94del
ENST00000388922.9:c.313+93_313+94del MANE Select	ENSP00000373574.4:n.313+93_313+94del
ENST00000388922.8:c.313+93_313+94del	ENSP00000373574.4:n.313+93_313+94del
ENST00000419526.6:c.103+908_103+909del	ENSP00000392492.2:n.103+908_103+909del
ENST00000547400.5:c.355+93_355+94del	ENSP00000446724.1:n.355+93_355+94del
ENST00000550683.5:c.355+93_355+94del	ENSP00000447884.1:n.355+93_355+94del
NM_000020.2:c.313+93_313+94del , LRG_543t1:c.313+93_313+94del	NP_000011.2:n.313+93_313+94del
NM_001077401.1:c.313+93_313+94del	NP_001070869.1:n.313+93_313+94del
XM_005269235.2:c.313+93_313+94del	XP_005269292.1:n.313+93_313+94del
XM_011539008.1:c.355+93_355+94del	XP_011537310.1:n.355+93_355+94del
XM_024449279.1:c.-377+93_-377+94del	XP_024305047.1:n.-377+93_-377+94del
NM_000020.3:c.313+93_313+94del MANE Select	NP_000011.2:n.313+93_313+94del
NM_001077401.2:c.313+93_313+94del	NP_001070869.1:n.313+93_313+94del