Canonical Allele Identifier: CA2036268520

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914125_51914132delinsGGAGGGGT , CM000674.2:g.51914125_51914132delinsGGAGGGGT	GRCh38
NC_000012.11:g.52307909_52307916delinsGGAGGGGT , CM000674.1:g.52307909_52307916delinsGGAGGGGT	GRCh37
NC_000012.10:g.50594176_50594183delinsGGAGGGGT	NCBI36
NG_009549.1:g.11708_11715delinsGGAGGGGT , LRG_543:g.11708_11715delinsGGAGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-314_356-307delinsGGAGGGGT	ENSP00000446724.2:n.356-314_356-307delinsGGAGGGGT
ENST00000551576.6:c.625+52_625+59delinsGGAGGGGT	ENSP00000455848.2:n.625+52_625+59delinsGGAGGGGT
ENST00000552678.2:c.625+52_625+59delinsGGAGGGGT	ENSP00000457394.2:n.625+52_625+59delinsGGAGGGGT
ENST00000388922.9:c.625+52_625+59delinsGGAGGGGT MANE Select	ENSP00000373574.4:n.625+52_625+59delinsGGAGGGGT
ENST00000388922.8:c.625+52_625+59delinsGGAGGGGT	ENSP00000373574.4:n.625+52_625+59delinsGGAGGGGT
ENST00000419526.6:c.104-314_104-307delinsGGAGGGGT	ENSP00000392492.2:n.104-314_104-307delinsGGAGGGGT
ENST00000547400.5:c.356-314_356-307delinsGGAGGGGT	ENSP00000446724.1:n.356-314_356-307delinsGGAGGGGT
ENST00000550683.5:c.667+52_667+59delinsGGAGGGGT	ENSP00000447884.1:n.667+52_667+59delinsGGAGGGGT
NM_000020.2:c.625+52_625+59delinsGGAGGGGT , LRG_543t1:c.625+52_625+59delinsGGAGGGGT	NP_000011.2:n.625+52_625+59delinsGGAGGGGT
NM_001077401.1:c.625+52_625+59delinsGGAGGGGT	NP_001070869.1:n.625+52_625+59delinsGGAGGGGT
XM_005269235.2:c.625+52_625+59delinsGGAGGGGT	XP_005269292.1:n.625+52_625+59delinsGGAGGGGT
XM_011539008.1:c.356-314_356-307delinsGGAGGGGT	XP_011537310.1:n.356-314_356-307delinsGGAGGGGT
XM_024449279.1:c.-164-314_-164-307delinsGGAGGGGT	XP_024305047.1:n.-164-314_-164-307delinsGGAGGGGT
NM_000020.3:c.625+52_625+59delinsGGAGGGGT MANE Select	NP_000011.2:n.625+52_625+59delinsGGAGGGGT
NM_001077401.2:c.625+52_625+59delinsGGAGGGGT	NP_001070869.1:n.625+52_625+59delinsGGAGGGGT