Canonical Allele Identifier: CA2036267352

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913332_51913335dup , CM000674.2:g.51913332_51913335dup	GRCh38
NC_000012.11:g.52307116_52307119dup , CM000674.1:g.52307116_52307119dup	GRCh37
NC_000012.10:g.50593383_50593386dup	NCBI36
NG_009549.1:g.10915_10918dup , LRG_543:g.10915_10918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.337_340dup	ENSP00000446724.2:p.Ser114CysfsTer22
ENST00000551576.6:c.295_298dup	ENSP00000455848.2:p.Ser100CysfsTer?
ENST00000552678.2:c.295_298dup	ENSP00000457394.2:p.Ser100CysfsTer?
ENST00000388922.9:c.295_298dup MANE Select	ENSP00000373574.4:p.Ser100CysfsTer?
ENST00000388922.8:c.295_298dup	ENSP00000373574.4:p.Ser100CysfsTer?
ENST00000419526.6:c.103+797_103+800dup	ENSP00000392492.2:n.103+797_103+800dup
ENST00000547400.5:c.337_340dup	ENSP00000446724.1:p.Ser114CysfsTer22
ENST00000550683.5:c.337_340dup	ENSP00000447884.1:p.Ser114CysfsTer?
NM_000020.2:c.295_298dup , LRG_543t1:c.295_298dup	NP_000011.2:p.Ser100CysfsTer?
NM_001077401.1:c.295_298dup	NP_001070869.1:p.Ser100CysfsTer?
XM_005269235.2:c.295_298dup	XP_005269292.1:p.Ser100CysfsTer?
XM_011539008.1:c.337_340dup	XP_011537310.1:p.Ser114CysfsTer22
XM_024449279.1:c.-395_-392dup	XP_024305047.1:n.-395_-392dup
NM_000020.3:c.295_298dup MANE Select	NP_000011.2:p.Ser100CysfsTer?
NM_001077401.2:c.295_298dup	NP_001070869.1:p.Ser100CysfsTer?