Canonical Allele Identifier: CA2618860977

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920939-T-TGTGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920940_51920941insTGGGGGGGGG , CM000674.2:g.51920940_51920941insTGGGGGGGGG	GRCh38
NC_000012.11:g.52314724_52314725insTGGGGGGGGG , CM000674.1:g.52314724_52314725insTGGGGGGGGG	GRCh37
NC_000012.10:g.50600991_50600992insTGGGGGGGGG	NCBI36
NG_009549.1:g.18523_18524insTGGGGGGGGG , LRG_543:g.18523_18524insTGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*47_*48insTGGGGGGGGG	ENSP00000455848.2:n.*47_*48insTGGGGGGGGG
ENST00000388922.9:c.*47_*48insTGGGGGGGGG MANE Select	ENSP00000373574.4:n.*47_*48insTGGGGGGGGG
ENST00000388922.8:c.*47_*48insTGGGGGGGGG	ENSP00000373574.4:n.*47_*48insTGGGGGGGGG
ENST00000419526.6:c.*47_*48insTGGGGGGGGG	ENSP00000392492.2:n.*47_*48insTGGGGGGGGG
ENST00000550683.5:c.*47_*48insTGGGGGGGGG	ENSP00000447884.1:n.*47_*48insTGGGGGGGGG
NM_000020.2:c.*47_*48insTGGGGGGGGG , LRG_543t1:c.*47_*48insTGGGGGGGGG	NP_000011.2:n.*47_*48insTGGGGGGGGG
NM_001077401.1:c.*47_*48insTGGGGGGGGG	NP_001070869.1:n.*47_*48insTGGGGGGGGG
XM_005269235.2:c.*47_*48insTGGGGGGGGG	XP_005269292.1:n.*47_*48insTGGGGGGGGG
XM_011539008.1:c.*47_*48insTGGGGGGGGG	XP_011537310.1:n.*47_*48insTGGGGGGGGG
XM_024449279.1:c.*47_*48insTGGGGGGGGG	XP_024305047.1:n.*47_*48insTGGGGGGGGG
NM_000020.3:c.*47_*48insTGGGGGGGGG MANE Select	NP_000011.2:n.*47_*48insTGGGGGGGGG
NM_001077401.2:c.*47_*48insTGGGGGGGGG	NP_001070869.1:n.*47_*48insTGGGGGGGGG