Canonical Allele Identifier: CA2036267224

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913294_51913295delinsAC , CM000674.2:g.51913294_51913295delinsAC	GRCh38
NC_000012.11:g.52307078_52307079delinsAC , CM000674.1:g.52307078_52307079delinsAC	GRCh37
NC_000012.10:g.50593345_50593346delinsAC	NCBI36
NG_009549.1:g.10877_10878delinsAC , LRG_543:g.10877_10878delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.299_300delinsAC	ENSP00000446724.2:p.Asn100=
ENST00000551576.6:c.257_258delinsAC	ENSP00000455848.2:p.Asn86=
ENST00000552678.2:c.257_258delinsAC	ENSP00000457394.2:p.Asn86=
ENST00000388922.9:c.257_258delinsAC MANE Select	ENSP00000373574.4:p.Asn86=
ENST00000388922.8:c.257_258delinsAC	ENSP00000373574.4:p.Asn86=
ENST00000419526.6:c.103+759_103+760delinsAC	ENSP00000392492.2:n.103+759_103+760delinsAC
ENST00000547400.5:c.299_300delinsAC	ENSP00000446724.1:p.Asn100=
ENST00000550683.5:c.299_300delinsAC	ENSP00000447884.1:p.Asn100=
ENST00000551576.5:c.257_258delinsAC	ENSP00000455848.1:p.Asn86=
NM_000020.2:c.257_258delinsAC , LRG_543t1:c.257_258delinsAC	NP_000011.2:p.Asn86=
NM_001077401.1:c.257_258delinsAC	NP_001070869.1:p.Asn86=
XM_005269235.2:c.257_258delinsAC	XP_005269292.1:p.Asn86=
XM_011539008.1:c.299_300delinsAC	XP_011537310.1:p.Asn100=
XM_024449279.1:c.-433_-432delinsAC	XP_024305047.1:n.-433_-432delinsAC
NM_000020.3:c.257_258delinsAC MANE Select	NP_000011.2:p.Asn86=
NM_001077401.2:c.257_258delinsAC	NP_001070869.1:p.Asn86=