Canonical Allele Identifier: CA2618858259

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913438-A-ATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913438_51913439insTGG , CM000674.2:g.51913438_51913439insTGG	GRCh38
NC_000012.11:g.52307222_52307223insTGG , CM000674.1:g.52307222_52307223insTGG	GRCh37
NC_000012.10:g.50593489_50593490insTGG	NCBI36
NG_009549.1:g.11021_11022insTGG , LRG_543:g.11021_11022insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+88_355+89insTGG	ENSP00000446724.2:n.355+88_355+89insTGG
ENST00000551576.6:c.313+88_313+89insTGG	ENSP00000455848.2:n.313+88_313+89insTGG
ENST00000552678.2:c.313+88_313+89insTGG	ENSP00000457394.2:n.313+88_313+89insTGG
ENST00000388922.9:c.313+88_313+89insTGG MANE Select	ENSP00000373574.4:n.313+88_313+89insTGG
ENST00000388922.8:c.313+88_313+89insTGG	ENSP00000373574.4:n.313+88_313+89insTGG
ENST00000419526.6:c.103+903_103+904insTGG	ENSP00000392492.2:n.103+903_103+904insTGG
ENST00000547400.5:c.355+88_355+89insTGG	ENSP00000446724.1:n.355+88_355+89insTGG
ENST00000550683.5:c.355+88_355+89insTGG	ENSP00000447884.1:n.355+88_355+89insTGG
NM_000020.2:c.313+88_313+89insTGG , LRG_543t1:c.313+88_313+89insTGG	NP_000011.2:n.313+88_313+89insTGG
NM_001077401.1:c.313+88_313+89insTGG	NP_001070869.1:n.313+88_313+89insTGG
XM_005269235.2:c.313+88_313+89insTGG	XP_005269292.1:n.313+88_313+89insTGG
XM_011539008.1:c.355+88_355+89insTGG	XP_011537310.1:n.355+88_355+89insTGG
XM_024449279.1:c.-377+88_-377+89insTGG	XP_024305047.1:n.-377+88_-377+89insTGG
NM_000020.3:c.313+88_313+89insTGG MANE Select	NP_000011.2:n.313+88_313+89insTGG
NM_001077401.2:c.313+88_313+89insTGG	NP_001070869.1:n.313+88_313+89insTGG