Canonical Allele Identifier: CA2618861013

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGGTGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920941_51920942insTGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51920941_51920942insTGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314725_52314726insTGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52314725_52314726insTGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600992_50600993insTGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18524_18525insTGGGGGGGGGGGGGGGGGGG , LRG_543:g.18524_18525insTGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
ENST00000388922.9:c.*48_*49insTGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
ENST00000388922.8:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
ENST00000419526.6:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
ENST00000550683.5:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
NM_000020.2:c.*48_*49insTGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
NM_001077401.1:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
XM_005269235.2:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
XM_011539008.1:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
XM_024449279.1:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
NM_000020.3:c.*48_*49insTGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.*48_*49insTGGGGGGGGGGGGGGGGGGG
NM_001077401.2:c.*48_*49insTGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*48_*49insTGGGGGGGGGGGGGGGGGGG