Canonical Allele Identifier: CA236364366

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1084078
• ClinVar RCV Id: RCV001400950
• dbSNP Id: rs575587274
• gnomAD v2: 12-52309337-GCTCT-G
• gnomAD v3: 12-51915553-GCTCT-G
• gnomAD v4: 12-51915553-GCTCT-G
• MyVariant Identifiers: chr12:g.52309338_52309341del (hg19) ; chr12:g.51915554_51915557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915555_51915558del , CM000674.2:g.51915555_51915558del	GRCh38
NC_000012.11:g.52309339_52309342del , CM000674.1:g.52309339_52309342del	GRCh37
NC_000012.10:g.50595606_50595609del	NCBI36
NG_009549.1:g.13138_13141del , LRG_543:g.13138_13141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+55_778+58del	ENSP00000446724.2:n.778+55_778+58del
ENST00000551576.6:c.1048+55_1048+58del	ENSP00000455848.2:n.1048+55_1048+58del
ENST00000552678.2:c.1048+55_1048+58del	ENSP00000457394.2:n.1048+55_1048+58del
ENST00000388922.9:c.1048+55_1048+58del MANE Select	ENSP00000373574.4:n.1048+55_1048+58del
ENST00000388922.8:c.1048+55_1048+58del	ENSP00000373574.4:n.1048+55_1048+58del
ENST00000419526.6:c.526+55_526+58del	ENSP00000392492.2:n.526+55_526+58del
ENST00000550683.5:c.1090+55_1090+58del	ENSP00000447884.1:n.1090+55_1090+58del
ENST00000552678.1:c.53+55_53+58del
NM_000020.2:c.1048+55_1048+58del , LRG_543t1:c.1048+55_1048+58del	NP_000011.2:n.1048+55_1048+58del
NM_001077401.1:c.1048+55_1048+58del	NP_001070869.1:n.1048+55_1048+58del
XM_005269235.2:c.1048+55_1048+58del	XP_005269292.1:n.1048+55_1048+58del
XM_011539008.1:c.778+55_778+58del	XP_011537310.1:n.778+55_778+58del
XM_024449279.1:c.259+55_259+58del	XP_024305047.1:n.259+55_259+58del
NM_000020.3:c.1048+55_1048+58del MANE Select	NP_000011.2:n.1048+55_1048+58del
NM_001077401.2:c.1048+55_1048+58del	NP_001070869.1:n.1048+55_1048+58del