Canonical Allele Identifier: CA2036268562

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940770025
• gnomAD v4: 12-51914166-T-TGCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914170_51914174dup , CM000674.2:g.51914170_51914174dup	GRCh38
NC_000012.11:g.52307954_52307958dup , CM000674.1:g.52307954_52307958dup	GRCh37
NC_000012.10:g.50594221_50594225dup	NCBI36
NG_009549.1:g.11753_11757dup , LRG_543:g.11753_11757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-269_356-265dup	ENSP00000446724.2:n.356-269_356-265dup
ENST00000551576.6:c.625+97_625+101dup	ENSP00000455848.2:n.625+97_625+101dup
ENST00000552678.2:c.625+97_625+101dup	ENSP00000457394.2:n.625+97_625+101dup
ENST00000388922.9:c.625+97_625+101dup MANE Select	ENSP00000373574.4:n.625+97_625+101dup
ENST00000388922.8:c.625+97_625+101dup	ENSP00000373574.4:n.625+97_625+101dup
ENST00000419526.6:c.104-269_104-265dup	ENSP00000392492.2:n.104-269_104-265dup
ENST00000547400.5:c.356-269_356-265dup	ENSP00000446724.1:n.356-269_356-265dup
ENST00000550683.5:c.667+97_667+101dup	ENSP00000447884.1:n.667+97_667+101dup
NM_000020.2:c.625+97_625+101dup , LRG_543t1:c.625+97_625+101dup	NP_000011.2:n.625+97_625+101dup
NM_001077401.1:c.625+97_625+101dup	NP_001070869.1:n.625+97_625+101dup
XM_005269235.2:c.625+97_625+101dup	XP_005269292.1:n.625+97_625+101dup
XM_011539008.1:c.356-269_356-265dup	XP_011537310.1:n.356-269_356-265dup
XM_024449279.1:c.-164-269_-164-265dup	XP_024305047.1:n.-164-269_-164-265dup
NM_000020.3:c.625+97_625+101dup MANE Select	NP_000011.2:n.625+97_625+101dup
NM_001077401.2:c.625+97_625+101dup	NP_001070869.1:n.625+97_625+101dup