Canonical Allele Identifier: CA2795984039

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921284_51921286del , CM000674.2:g.51921284_51921286del	GRCh38
NC_000012.11:g.52315068_52315070del , CM000674.1:g.52315068_52315070del	GRCh37
NC_000012.10:g.50601335_50601337del	NCBI36
NG_009549.1:g.18867_18869del , LRG_543:g.18867_18869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*391_*393del	ENSP00000455848.2:n.*391_*393del
ENST00000388922.9:c.*391_*393del MANE Select	ENSP00000373574.4:n.*391_*393del
ENST00000550683.5:c.*391_*393del	ENSP00000447884.1:n.*391_*393del
NM_000020.2:c.*391_*393del , LRG_543t1:c.*391_*393del	NP_000011.2:n.*391_*393del
NM_001077401.1:c.*391_*393del	NP_001070869.1:n.*391_*393del
XM_005269235.2:c.*391_*393del	XP_005269292.1:n.*391_*393del
XM_011539008.1:c.*391_*393del	XP_011537310.1:n.*391_*393del
XM_024449279.1:c.*391_*393del	XP_024305047.1:n.*391_*393del
NM_000020.3:c.*391_*393del MANE Select	NP_000011.2:n.*391_*393del
NM_001077401.2:c.*391_*393del	NP_001070869.1:n.*391_*393del