Canonical Allele Identifier: CA605052776

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1353580616
• gnomAD v2: 12-52312929-TG-T
• gnomAD v3: 12-51919145-TG-T
• gnomAD v4: 12-51919145-TG-T
• MyVariant Identifiers: chr12:g.52312930del (hg19) ; chr12:g.51919146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919149del , CM000674.2:g.51919149del	GRCh38
NC_000012.11:g.52312933del , CM000674.1:g.52312933del	GRCh37
NC_000012.10:g.50599200del	NCBI36
NG_009549.1:g.16732del , LRG_543:g.16732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+34del	ENSP00000446724.2:n.1107+34del
ENST00000551576.6:c.1377+34del	ENSP00000455848.2:n.1377+34del
ENST00000552678.2:c.1411del	ENSP00000457394.2:p.Val471TrpfsTer29
ENST00000388922.9:c.1377+34del MANE Select	ENSP00000373574.4:n.1377+34del
ENST00000388922.8:c.1377+34del	ENSP00000373574.4:n.1377+34del
ENST00000419526.6:c.855+34del	ENSP00000392492.2:n.855+34del
ENST00000547632.1:n.686del
ENST00000550683.5:c.1419+34del	ENSP00000447884.1:n.1419+34del
ENST00000552678.1:c.416del
NM_000020.2:c.1377+34del , LRG_543t1:c.1377+34del	NP_000011.2:n.1377+34del
NM_001077401.1:c.1377+34del	NP_001070869.1:n.1377+34del
XM_005269235.2:c.1377+34del	XP_005269292.1:n.1377+34del
XM_011539008.1:c.1107+34del	XP_011537310.1:n.1107+34del
XM_024449279.1:c.588+34del	XP_024305047.1:n.588+34del
NM_000020.3:c.1377+34del MANE Select	NP_000011.2:n.1377+34del
NM_001077401.2:c.1377+34del	NP_001070869.1:n.1377+34del