Canonical Allele Identifier: CA2036236647

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915984_51916014delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG , CM000674.2:g.51915984_51916014delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	GRCh38
NC_000012.11:g.52309768_52309798delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG , CM000674.1:g.52309768_52309798delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	GRCh37
NC_000012.10:g.50596035_50596065delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	NCBI36
NG_009549.1:g.13567_13597delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG , LRG_543:g.13567_13597delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000446724.2:n.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAG...
ENST00000551576.6:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000455848.2:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAG...
ENST00000552678.2:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000457394.2:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAG...
ENST00000388922.9:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG MANE Select	ENSP00000373574.4:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAG...
ENST00000388922.8:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000373574.4:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAG...
ENST00000419526.6:c.527-52_527-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000392492.2:n.527-52_527-22delinsCTGGATCCCAGGTTTGGGAGAG...
ENST00000547632.1:n.272_302delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG
ENST00000550683.5:c.1091-52_1091-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	ENSP00000447884.1:n.1091-52_1091-22delinsCTGGATCCCAGGTTTGGGAG...
ENST00000552678.1:c.54-52_54-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG
NM_000020.2:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG , LRG_543t1:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	NP_000011.2:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGC...
NM_001077401.1:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	NP_001070869.1:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGG...
XM_005269235.2:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	XP_005269292.1:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGG...
XM_011539008.1:c.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	XP_011537310.1:n.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAGGGG...
XM_024449279.1:c.260-52_260-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	XP_024305047.1:n.260-52_260-22delinsCTGGATCCCAGGTTTGGGAGAGGGG...
NM_000020.3:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG MANE Select	NP_000011.2:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGC...
NM_001077401.2:c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG	NP_001070869.1:n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGG...