Canonical Allele Identifier: CA605238881

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1565592647
• gnomAD v2: 12-52307138-C-CGTCCA
• gnomAD v4: 12-51913354-C-CGTCCA
• MyVariant Identifiers: chr12:g.52307138_52307139insGTCCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913356_51913360dup , CM000674.2:g.51913356_51913360dup	GRCh38
NC_000012.11:g.52307140_52307144dup , CM000674.1:g.52307140_52307144dup	GRCh37
NC_000012.10:g.50593407_50593411dup	NCBI36
NG_009549.1:g.10939_10943dup , LRG_543:g.10939_10943dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+6_355+10dup	ENSP00000446724.2:n.355+6_355+10dup
ENST00000551576.6:c.313+6_313+10dup	ENSP00000455848.2:n.313+6_313+10dup
ENST00000552678.2:c.313+6_313+10dup	ENSP00000457394.2:n.313+6_313+10dup
ENST00000388922.9:c.313+6_313+10dup MANE Select	ENSP00000373574.4:n.313+6_313+10dup
ENST00000388922.8:c.313+6_313+10dup	ENSP00000373574.4:n.313+6_313+10dup
ENST00000419526.6:c.103+821_103+825dup	ENSP00000392492.2:n.103+821_103+825dup
ENST00000547400.5:c.355+6_355+10dup	ENSP00000446724.1:n.355+6_355+10dup
ENST00000550683.5:c.355+6_355+10dup	ENSP00000447884.1:n.355+6_355+10dup
NM_000020.2:c.313+6_313+10dup , LRG_543t1:c.313+6_313+10dup	NP_000011.2:n.313+6_313+10dup
NM_001077401.1:c.313+6_313+10dup	NP_001070869.1:n.313+6_313+10dup
XM_005269235.2:c.313+6_313+10dup	XP_005269292.1:n.313+6_313+10dup
XM_011539008.1:c.355+6_355+10dup	XP_011537310.1:n.355+6_355+10dup
XM_024449279.1:c.-377+6_-377+10dup	XP_024305047.1:n.-377+6_-377+10dup
NM_000020.3:c.313+6_313+10dup MANE Select	NP_000011.2:n.313+6_313+10dup
NM_001077401.2:c.313+6_313+10dup	NP_001070869.1:n.313+6_313+10dup