Canonical Allele Identifier: CA2036242043

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920922_51920923delinsGC , CM000674.2:g.51920922_51920923delinsGC	GRCh38
NC_000012.11:g.52314706_52314707delinsGC , CM000674.1:g.52314706_52314707delinsGC	GRCh37
NC_000012.10:g.50600973_50600974delinsGC	NCBI36
NG_009549.1:g.18505_18506delinsGC , LRG_543:g.18505_18506delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*29_*30delinsGC	ENSP00000455848.2:n.*29_*30delinsGC
ENST00000388922.9:c.*29_*30delinsGC MANE Select	ENSP00000373574.4:n.*29_*30delinsGC
ENST00000388922.8:c.*29_*30delinsGC	ENSP00000373574.4:n.*29_*30delinsGC
ENST00000419526.6:c.*29_*30delinsGC	ENSP00000392492.2:n.*29_*30delinsGC
ENST00000550683.5:c.*29_*30delinsGC	ENSP00000447884.1:n.*29_*30delinsGC
NM_000020.2:c.*29_*30delinsGC , LRG_543t1:c.*29_*30delinsGC	NP_000011.2:n.*29_*30delinsGC
NM_001077401.1:c.*29_*30delinsGC	NP_001070869.1:n.*29_*30delinsGC
XM_005269235.2:c.*29_*30delinsGC	XP_005269292.1:n.*29_*30delinsGC
XM_011539008.1:c.*29_*30delinsGC	XP_011537310.1:n.*29_*30delinsGC
XM_024449279.1:c.*29_*30delinsGC	XP_024305047.1:n.*29_*30delinsGC
NM_000020.3:c.*29_*30delinsGC MANE Select	NP_000011.2:n.*29_*30delinsGC
NM_001077401.2:c.*29_*30delinsGC	NP_001070869.1:n.*29_*30delinsGC