Canonical Allele Identifier: CA2618859448

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913633-C-CAGGCCCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913633_51913634insAGGCCCTGG , CM000674.2:g.51913633_51913634insAGGCCCTGG	GRCh38
NC_000012.11:g.52307417_52307418insAGGCCCTGG , CM000674.1:g.52307417_52307418insAGGCCCTGG	GRCh37
NC_000012.10:g.50593684_50593685insAGGCCCTGG	NCBI36
NG_009549.1:g.11216_11217insAGGCCCTGG , LRG_543:g.11216_11217insAGGCCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+283_355+284insAGGCCCTGG	ENSP00000446724.2:n.355+283_355+284insAGGCCCTGG
ENST00000551576.6:c.388_389insAGGCCCTGG	ENSP00000455848.2:p.Leu130delinsGlnAlaLeuVal
ENST00000552678.2:c.388_389insAGGCCCTGG	ENSP00000457394.2:p.Leu130delinsGlnAlaLeuVal
ENST00000388922.9:c.388_389insAGGCCCTGG MANE Select	ENSP00000373574.4:p.Leu130delinsGlnAlaLeuVal
ENST00000388922.8:c.388_389insAGGCCCTGG	ENSP00000373574.4:p.Leu130delinsGlnAlaLeuVal
ENST00000419526.6:c.104-806_104-805insAGGCCCTGG	ENSP00000392492.2:n.104-806_104-805insAGGCCCTGG
ENST00000547400.5:c.355+283_355+284insAGGCCCTGG	ENSP00000446724.1:n.355+283_355+284insAGGCCCTGG
ENST00000550683.5:c.430_431insAGGCCCTGG	ENSP00000447884.1:p.Leu144delinsGlnAlaLeuVal
NM_000020.2:c.388_389insAGGCCCTGG , LRG_543t1:c.388_389insAGGCCCTGG	NP_000011.2:p.Leu130delinsGlnAlaLeuVal
NM_001077401.1:c.388_389insAGGCCCTGG	NP_001070869.1:p.Leu130delinsGlnAlaLeuVal
XM_005269235.2:c.388_389insAGGCCCTGG	XP_005269292.1:p.Leu130delinsGlnAlaLeuVal
XM_011539008.1:c.355+283_355+284insAGGCCCTGG	XP_011537310.1:n.355+283_355+284insAGGCCCTGG
XM_024449279.1:c.-302_-301insAGGCCCTGG	XP_024305047.1:n.-302_-301insAGGCCCTGG
NM_000020.3:c.388_389insAGGCCCTGG MANE Select	NP_000011.2:p.Leu130delinsGlnAlaLeuVal
NM_001077401.2:c.388_389insAGGCCCTGG	NP_001070869.1:p.Leu130delinsGlnAlaLeuVal