Canonical Allele Identifier: CA2036268555

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914165_51914170delinsGTGCCA , CM000674.2:g.51914165_51914170delinsGTGCCA	GRCh38
NC_000012.11:g.52307949_52307954delinsGTGCCA , CM000674.1:g.52307949_52307954delinsGTGCCA	GRCh37
NC_000012.10:g.50594216_50594221delinsGTGCCA	NCBI36
NG_009549.1:g.11748_11753delinsGTGCCA , LRG_543:g.11748_11753delinsGTGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-274_356-269delinsGTGCCA	ENSP00000446724.2:n.356-274_356-269delins...
ENST00000551576.6:c.625+92_625+97delinsGTGCCA	ENSP00000455848.2:n.625+92_625+97delinsGT...
ENST00000552678.2:c.625+92_625+97delinsGTGCCA	ENSP00000457394.2:n.625+92_625+97delinsGT...
ENST00000388922.9:c.625+92_625+97delinsGTGCCA MANE Select	ENSP00000373574.4:n.625+92_625+97delinsGT...
ENST00000388922.8:c.625+92_625+97delinsGTGCCA	ENSP00000373574.4:n.625+92_625+97delinsGT...
ENST00000419526.6:c.104-274_104-269delinsGTGCCA	ENSP00000392492.2:n.104-274_104-269delins...
ENST00000547400.5:c.356-274_356-269delinsGTGCCA	ENSP00000446724.1:n.356-274_356-269delins...
ENST00000550683.5:c.667+92_667+97delinsGTGCCA	ENSP00000447884.1:n.667+92_667+97delinsGT...
NM_000020.2:c.625+92_625+97delinsGTGCCA , LRG_543t1:c.625+92_625+97delinsGTGCCA	NP_000011.2:n.625+92_625+97delinsGTGCCA
NM_001077401.1:c.625+92_625+97delinsGTGCCA	NP_001070869.1:n.625+92_625+97delinsGTGCC...
XM_005269235.2:c.625+92_625+97delinsGTGCCA	XP_005269292.1:n.625+92_625+97delinsGTGCC...
XM_011539008.1:c.356-274_356-269delinsGTGCCA	XP_011537310.1:n.356-274_356-269delinsGTG...
XM_024449279.1:c.-164-274_-164-269delinsGTGCCA	XP_024305047.1:n.-164-274_-164-269delinsG...
NM_000020.3:c.625+92_625+97delinsGTGCCA MANE Select	NP_000011.2:n.625+92_625+97delinsGTGCCA
NM_001077401.2:c.625+92_625+97delinsGTGCCA	NP_001070869.1:n.625+92_625+97delinsGTGCC...