Canonical Allele Identifier: CA689765167

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1259553852
• gnomAD v3: 12-51914165-GTGCCA-G
• gnomAD v4: 12-51914165-GTGCCA-G
• MyVariant Identifiers: chr12:g.52307950_52307954del (hg19) ; chr12:g.51914166_51914170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914166_51914170del , CM000674.2:g.51914166_51914170del	GRCh38
NC_000012.11:g.52307950_52307954del , CM000674.1:g.52307950_52307954del	GRCh37
NC_000012.10:g.50594217_50594221del	NCBI36
NG_009549.1:g.11749_11753del , LRG_543:g.11749_11753del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-273_356-269del	ENSP00000446724.2:n.356-273_356-269del
ENST00000551576.6:c.625+93_625+97del	ENSP00000455848.2:n.625+93_625+97del
ENST00000552678.2:c.625+93_625+97del	ENSP00000457394.2:n.625+93_625+97del
ENST00000388922.9:c.625+93_625+97del MANE Select	ENSP00000373574.4:n.625+93_625+97del
ENST00000388922.8:c.625+93_625+97del	ENSP00000373574.4:n.625+93_625+97del
ENST00000419526.6:c.104-273_104-269del	ENSP00000392492.2:n.104-273_104-269del
ENST00000547400.5:c.356-273_356-269del	ENSP00000446724.1:n.356-273_356-269del
ENST00000550683.5:c.667+93_667+97del	ENSP00000447884.1:n.667+93_667+97del
NM_000020.2:c.625+93_625+97del , LRG_543t1:c.625+93_625+97del	NP_000011.2:n.625+93_625+97del
NM_001077401.1:c.625+93_625+97del	NP_001070869.1:n.625+93_625+97del
XM_005269235.2:c.625+93_625+97del	XP_005269292.1:n.625+93_625+97del
XM_011539008.1:c.356-273_356-269del	XP_011537310.1:n.356-273_356-269del
XM_024449279.1:c.-164-273_-164-269del	XP_024305047.1:n.-164-273_-164-269del
NM_000020.3:c.625+93_625+97del MANE Select	NP_000011.2:n.625+93_625+97del
NM_001077401.2:c.625+93_625+97del	NP_001070869.1:n.625+93_625+97del