Canonical Allele Identifier: CA2836045154

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915632_51915634del , CM000674.2:g.51915632_51915634del	GRCh38
NC_000012.11:g.52309416_52309418del , CM000674.1:g.52309416_52309418del	GRCh37
NC_000012.10:g.50595683_50595685del	NCBI36
NG_009549.1:g.13215_13217del , LRG_543:g.13215_13217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+132_778+134del	ENSP00000446724.2:n.778+132_778+134del
ENST00000551576.6:c.1048+132_1048+134del	ENSP00000455848.2:n.1048+132_1048+134del
ENST00000552678.2:c.1048+132_1048+134del	ENSP00000457394.2:n.1048+132_1048+134del
ENST00000388922.9:c.1048+132_1048+134del MANE Select	ENSP00000373574.4:n.1048+132_1048+134del
ENST00000388922.8:c.1048+132_1048+134del	ENSP00000373574.4:n.1048+132_1048+134del
ENST00000419526.6:c.526+132_526+134del	ENSP00000392492.2:n.526+132_526+134del
ENST00000550683.5:c.1090+132_1090+134del	ENSP00000447884.1:n.1090+132_1090+134del
ENST00000552678.1:c.53+132_53+134del
NM_000020.2:c.1048+132_1048+134del , LRG_543t1:c.1048+132_1048+134del	NP_000011.2:n.1048+132_1048+134del
NM_001077401.1:c.1048+132_1048+134del	NP_001070869.1:n.1048+132_1048+134del
XM_005269235.2:c.1048+132_1048+134del	XP_005269292.1:n.1048+132_1048+134del
XM_011539008.1:c.778+132_778+134del	XP_011537310.1:n.778+132_778+134del
XM_024449279.1:c.259+132_259+134del	XP_024305047.1:n.259+132_259+134del
NM_000020.3:c.1048+132_1048+134del MANE Select	NP_000011.2:n.1048+132_1048+134del
NM_001077401.2:c.1048+132_1048+134del	NP_001070869.1:n.1048+132_1048+134del