Canonical Allele Identifier: CA2795984024

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920987_51920988insTTGG , CM000674.2:g.51920987_51920988insTTGG	GRCh38
NC_000012.11:g.52314771_52314772insTTGG , CM000674.1:g.52314771_52314772insTTGG	GRCh37
NC_000012.10:g.50601038_50601039insTTGG	NCBI36
NG_009549.1:g.18570_18571insTTGG , LRG_543:g.18570_18571insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*94_*95insTTGG	ENSP00000455848.2:n.*94_*95insTTGG
ENST00000388922.9:c.*94_*95insTTGG MANE Select	ENSP00000373574.4:n.*94_*95insTTGG
ENST00000388922.8:c.*94_*95insTTGG	ENSP00000373574.4:n.*94_*95insTTGG
ENST00000419526.6:c.*94_*95insTTGG	ENSP00000392492.2:n.*94_*95insTTGG
ENST00000550683.5:c.*94_*95insTTGG	ENSP00000447884.1:n.*94_*95insTTGG
NM_000020.2:c.*94_*95insTTGG , LRG_543t1:c.*94_*95insTTGG	NP_000011.2:n.*94_*95insTTGG
NM_001077401.1:c.*94_*95insTTGG	NP_001070869.1:n.*94_*95insTTGG
XM_005269235.2:c.*94_*95insTTGG	XP_005269292.1:n.*94_*95insTTGG
XM_011539008.1:c.*94_*95insTTGG	XP_011537310.1:n.*94_*95insTTGG
XM_024449279.1:c.*94_*95insTTGG	XP_024305047.1:n.*94_*95insTTGG
NM_000020.3:c.*94_*95insTTGG MANE Select	NP_000011.2:n.*94_*95insTTGG
NM_001077401.2:c.*94_*95insTTGG	NP_001070869.1:n.*94_*95insTTGG