Canonical Allele Identifier: CA2795983359

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920804_51920805insCACACCCAACAC , CM000674.2:g.51920804_51920805insCACACCCAACAC	GRCh38
NC_000012.11:g.52314588_52314589insCACACCCAACAC , CM000674.1:g.52314588_52314589insCACACCCAACAC	GRCh37
NC_000012.10:g.50600855_50600856insCACACCCAACAC	NCBI36
NG_009549.1:g.18387_18388insCACACCCAACAC , LRG_543:g.18387_18388insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1153_1154insCACACCCAACAC	ENSP00000446724.2:p.Asn385delinsThrHisProThrHis
ENST00000551576.6:c.1423_1424insCACACCCAACAC	ENSP00000455848.2:p.Asn475delinsThrHisProThrHis
ENST00000388922.9:c.1423_1424insCACACCCAACAC MANE Select	ENSP00000373574.4:p.Asn475delinsThrHisProThrHis
ENST00000388922.8:c.1423_1424insCACACCCAACAC	ENSP00000373574.4:p.Asn475delinsThrHisProThrHis
ENST00000419526.6:c.901_902insCACACCCAACAC	ENSP00000392492.2:p.Asn301delinsThrHisProThrHis
ENST00000550683.5:c.1465_1466insCACACCCAACAC	ENSP00000447884.1:p.Asn489delinsThrHisProThrHis
NM_000020.2:c.1423_1424insCACACCCAACAC , LRG_543t1:c.1423_1424insCACACCCAACAC	NP_000011.2:p.Asn475delinsThrHisProThrHis
NM_001077401.1:c.1423_1424insCACACCCAACAC	NP_001070869.1:p.Asn475delinsThrHisProThrHis
XM_005269235.2:c.1423_1424insCACACCCAACAC	XP_005269292.1:p.Asn475delinsThrHisProThrHis
XM_011539008.1:c.1153_1154insCACACCCAACAC	XP_011537310.1:p.Asn385delinsThrHisProThrHis
XM_024449279.1:c.634_635insCACACCCAACAC	XP_024305047.1:p.Asn212delinsThrHisProThrHis
NM_000020.3:c.1423_1424insCACACCCAACAC MANE Select	NP_000011.2:p.Asn475delinsThrHisProThrHis
NM_001077401.2:c.1423_1424insCACACCCAACAC	NP_001070869.1:p.Asn475delinsThrHisProThrHis