Canonical Allele Identifier: CA2536794642

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920932_51920933insTTT , CM000674.2:g.51920932_51920933insTTT	GRCh38
NC_000012.11:g.52314716_52314717insTTT , CM000674.1:g.52314716_52314717insTTT	GRCh37
NC_000012.10:g.50600983_50600984insTTT	NCBI36
NG_009549.1:g.18515_18516insTTT , LRG_543:g.18515_18516insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*39_*40insTTT	ENSP00000455848.2:n.*39_*40insTTT
ENST00000388922.9:c.*39_*40insTTT MANE Select	ENSP00000373574.4:n.*39_*40insTTT
ENST00000388922.8:c.*39_*40insTTT	ENSP00000373574.4:n.*39_*40insTTT
ENST00000419526.6:c.*39_*40insTTT	ENSP00000392492.2:n.*39_*40insTTT
ENST00000550683.5:c.*39_*40insTTT	ENSP00000447884.1:n.*39_*40insTTT
NM_000020.2:c.*39_*40insTTT , LRG_543t1:c.*39_*40insTTT	NP_000011.2:n.*39_*40insTTT
NM_001077401.1:c.*39_*40insTTT	NP_001070869.1:n.*39_*40insTTT
XM_005269235.2:c.*39_*40insTTT	XP_005269292.1:n.*39_*40insTTT
XM_011539008.1:c.*39_*40insTTT	XP_011537310.1:n.*39_*40insTTT
XM_024449279.1:c.*39_*40insTTT	XP_024305047.1:n.*39_*40insTTT
NM_000020.3:c.*39_*40insTTT MANE Select	NP_000011.2:n.*39_*40insTTT
NM_001077401.2:c.*39_*40insTTT	NP_001070869.1:n.*39_*40insTTT