Canonical Allele Identifier: CA605053059
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1192710142

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920712_51920739dup , CM000674.2:g.51920712_51920739dup GRCh38
NC_000012.11:g.52314496_52314523dup , CM000674.1:g.52314496_52314523dup GRCh37
NC_000012.10:g.50600763_50600790dup NCBI36
NG_009549.1:g.18295_18322dup , LRG_543:g.18295_18322dup

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-47_1378-20dup MANE Select ENSP00000373574.4:n.1378-47_1378-20dup
ENST00000388922.8:c.1378-47_1378-20dup ENSP00000373574.4:n.1378-47_1378-20dup
ENST00000419526.6:c.856-47_856-20dup ENSP00000392492.2:n.856-47_856-20dup
ENST00000550683.5:c.1420-47_1420-20dup ENSP00000447884.1:n.1420-47_1420-20dup
NM_000020.2:c.1378-47_1378-20dup , LRG_543t1:c.1378-47_1378-20dup NP_000011.2:n.1378-47_1378-20dup
NM_001077401.1:c.1378-47_1378-20dup NP_001070869.1:n.1378-47_1378-20dup
XM_005269235.2:c.1378-47_1378-20dup XP_005269292.1:n.1378-47_1378-20dup
XM_011539008.1:c.1108-47_1108-20dup XP_011537310.1:n.1108-47_1108-20dup
XM_024449279.1:c.589-47_589-20dup XP_024305047.1:n.589-47_589-20dup
NM_000020.3:c.1378-47_1378-20dup MANE Select NP_000011.2:n.1378-47_1378-20dup
NM_001077401.2:c.1378-47_1378-20dup NP_001070869.1:n.1378-47_1378-20dup