Canonical Allele Identifier: CA2036236369

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915602_51915603delinsAT , CM000674.2:g.51915602_51915603delinsAT	GRCh38
NC_000012.11:g.52309386_52309387delinsAT , CM000674.1:g.52309386_52309387delinsAT	GRCh37
NC_000012.10:g.50595653_50595654delinsAT	NCBI36
NG_009549.1:g.13185_13186delinsAT , LRG_543:g.13185_13186delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+102_778+103delinsAT	ENSP00000446724.2:n.778+102_778+103delinsAT
ENST00000551576.6:c.1048+102_1048+103delinsAT	ENSP00000455848.2:n.1048+102_1048+103delinsAT
ENST00000552678.2:c.1048+102_1048+103delinsAT	ENSP00000457394.2:n.1048+102_1048+103delinsAT
ENST00000388922.9:c.1048+102_1048+103delinsAT MANE Select	ENSP00000373574.4:n.1048+102_1048+103delinsAT
ENST00000388922.8:c.1048+102_1048+103delinsAT	ENSP00000373574.4:n.1048+102_1048+103delinsAT
ENST00000419526.6:c.526+102_526+103delinsAT	ENSP00000392492.2:n.526+102_526+103delinsAT
ENST00000550683.5:c.1090+102_1090+103delinsAT	ENSP00000447884.1:n.1090+102_1090+103delinsAT
ENST00000552678.1:c.53+102_53+103delinsAT
NM_000020.2:c.1048+102_1048+103delinsAT , LRG_543t1:c.1048+102_1048+103delinsAT	NP_000011.2:n.1048+102_1048+103delinsAT
NM_001077401.1:c.1048+102_1048+103delinsAT	NP_001070869.1:n.1048+102_1048+103delinsAT
XM_005269235.2:c.1048+102_1048+103delinsAT	XP_005269292.1:n.1048+102_1048+103delinsAT
XM_011539008.1:c.778+102_778+103delinsAT	XP_011537310.1:n.778+102_778+103delinsAT
XM_024449279.1:c.259+102_259+103delinsAT	XP_024305047.1:n.259+102_259+103delinsAT
NM_000020.3:c.1048+102_1048+103delinsAT MANE Select	NP_000011.2:n.1048+102_1048+103delinsAT
NM_001077401.2:c.1048+102_1048+103delinsAT	NP_001070869.1:n.1048+102_1048+103delinsAT