Canonical Allele Identifier: CA2795983809

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920881_51920882insCCAAACACACCCAACACA , CM000674.2:g.51920881_51920882insCCAAACACACCCAACACA	GRCh38
NC_000012.11:g.52314665_52314666insCCAAACACACCCAACACA , CM000674.1:g.52314665_52314666insCCAAACACACCCAACACA	GRCh37
NC_000012.10:g.50600932_50600933insCCAAACACACCCAACACA	NCBI36
NG_009549.1:g.18464_18465insCCAAACACACCCAACACA , LRG_543:g.18464_18465insCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1230_1231insCCAAACACACCCAACACA	ENSP00000446724.2:p.Lys410_Val411insProAsnThrProAsnThr
ENST00000551576.6:c.1500_1501insCCAAACACACCCAACACA	ENSP00000455848.2:p.Lys500_Val501insProAsnThrProAsnThr
ENST00000388922.9:c.1500_1501insCCAAACACACCCAACACA MANE Select	ENSP00000373574.4:p.Lys500_Val501insProAsnThrProAsnThr
ENST00000388922.8:c.1500_1501insCCAAACACACCCAACACA	ENSP00000373574.4:p.Lys500_Val501insProAsnThrProAsnThr
ENST00000419526.6:c.978_979insCCAAACACACCCAACACA	ENSP00000392492.2:p.Lys326_Val327insProAsnThrProAsnThr
ENST00000550683.5:c.1542_1543insCCAAACACACCCAACACA	ENSP00000447884.1:p.Lys514_Val515insProAsnThrProAsnThr
NM_000020.2:c.1500_1501insCCAAACACACCCAACACA , LRG_543t1:c.1500_1501insCCAAACACACCCAACACA	NP_000011.2:p.Lys500_Val501insProAsnThrProAsnThr
NM_001077401.1:c.1500_1501insCCAAACACACCCAACACA	NP_001070869.1:p.Lys500_Val501insProAsnThrProAsnThr
XM_005269235.2:c.1500_1501insCCAAACACACCCAACACA	XP_005269292.1:p.Lys500_Val501insProAsnThrProAsnThr
XM_011539008.1:c.1230_1231insCCAAACACACCCAACACA	XP_011537310.1:p.Lys410_Val411insProAsnThrProAsnThr
XM_024449279.1:c.711_712insCCAAACACACCCAACACA	XP_024305047.1:p.Lys237_Val238insProAsnThrProAsnThr
NM_000020.3:c.1500_1501insCCAAACACACCCAACACA MANE Select	NP_000011.2:p.Lys500_Val501insProAsnThrProAsnThr
NM_001077401.2:c.1500_1501insCCAAACACACCCAACACA	NP_001070869.1:p.Lys500_Val501insProAsnThrProAsnThr