Canonical Allele Identifier: CA2036241767

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920805_51920806delinsAC , CM000674.2:g.51920805_51920806delinsAC	GRCh38
NC_000012.11:g.52314589_52314590delinsAC , CM000674.1:g.52314589_52314590delinsAC	GRCh37
NC_000012.10:g.50600856_50600857delinsAC	NCBI36
NG_009549.1:g.18388_18389delinsAC , LRG_543:g.18388_18389delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1154_1155delinsAC	ENSP00000446724.2:p.Asn385=
ENST00000551576.6:c.1424_1425delinsAC	ENSP00000455848.2:p.Asn475=
ENST00000388922.9:c.1424_1425delinsAC MANE Select	ENSP00000373574.4:p.Asn475=
ENST00000388922.8:c.1424_1425delinsAC	ENSP00000373574.4:p.Asn475=
ENST00000419526.6:c.902_903delinsAC	ENSP00000392492.2:p.Asn301=
ENST00000550683.5:c.1466_1467delinsAC	ENSP00000447884.1:p.Asn489=
NM_000020.2:c.1424_1425delinsAC , LRG_543t1:c.1424_1425delinsAC	NP_000011.2:p.Asn475=
NM_001077401.1:c.1424_1425delinsAC	NP_001070869.1:p.Asn475=
XM_005269235.2:c.1424_1425delinsAC	XP_005269292.1:p.Asn475=
XM_011539008.1:c.1154_1155delinsAC	XP_011537310.1:p.Asn385=
XM_024449279.1:c.635_636delinsAC	XP_024305047.1:p.Asn212=
NM_000020.3:c.1424_1425delinsAC MANE Select	NP_000011.2:p.Asn475=
NM_001077401.2:c.1424_1425delinsAC	NP_001070869.1:p.Asn475=