Canonical Allele Identifier: CA2795983808

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920881_51920882insACCAAACACACCCAACACA , CM000674.2:g.51920881_51920882insACCAAACACACCCAACACA	GRCh38
NC_000012.11:g.52314665_52314666insACCAAACACACCCAACACA , CM000674.1:g.52314665_52314666insACCAAACACACCCAACACA	GRCh37
NC_000012.10:g.50600932_50600933insACCAAACACACCCAACACA	NCBI36
NG_009549.1:g.18464_18465insACCAAACACACCCAACACA , LRG_543:g.18464_18465insACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1230_1231insACCAAACACACCCAACACA	ENSP00000446724.2:p.Val411ThrfsTer?
ENST00000551576.6:c.1500_1501insACCAAACACACCCAACACA	ENSP00000455848.2:p.Val501ThrfsTer?
ENST00000388922.9:c.1500_1501insACCAAACACACCCAACACA MANE Select	ENSP00000373574.4:p.Val501ThrfsTer?
ENST00000388922.8:c.1500_1501insACCAAACACACCCAACACA	ENSP00000373574.4:p.Val501ThrfsTer?
ENST00000419526.6:c.978_979insACCAAACACACCCAACACA	ENSP00000392492.2:p.Val327ThrfsTer?
ENST00000550683.5:c.1542_1543insACCAAACACACCCAACACA	ENSP00000447884.1:p.Val515ThrfsTer?
NM_000020.2:c.1500_1501insACCAAACACACCCAACACA , LRG_543t1:c.1500_1501insACCAAACACACCCAACACA	NP_000011.2:p.Val501ThrfsTer?
NM_001077401.1:c.1500_1501insACCAAACACACCCAACACA	NP_001070869.1:p.Val501ThrfsTer?
XM_005269235.2:c.1500_1501insACCAAACACACCCAACACA	XP_005269292.1:p.Val501ThrfsTer?
XM_011539008.1:c.1230_1231insACCAAACACACCCAACACA	XP_011537310.1:p.Val411ThrfsTer?
XM_024449279.1:c.711_712insACCAAACACACCCAACACA	XP_024305047.1:p.Val238ThrfsTer?
NM_000020.3:c.1500_1501insACCAAACACACCCAACACA MANE Select	NP_000011.2:p.Val501ThrfsTer?
NM_001077401.2:c.1500_1501insACCAAACACACCCAACACA	NP_001070869.1:p.Val501ThrfsTer?