Canonical Allele Identifier: CA2580086487

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1768683
• ClinVar RCV Id: RCV002382900

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915440_51915446dup , CM000674.2:g.51915440_51915446dup	GRCh38
NC_000012.11:g.52309224_52309230dup , CM000674.1:g.52309224_52309230dup	GRCh37
NC_000012.10:g.50595491_50595497dup	NCBI36
NG_009549.1:g.13023_13029dup , LRG_543:g.13023_13029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.718_724dup	ENSP00000446724.2:p.Lys242ArgfsTer?
ENST00000551576.6:c.988_994dup	ENSP00000455848.2:p.Lys332ArgfsTer?
ENST00000552678.2:c.988_994dup	ENSP00000457394.2:p.Lys332ArgfsTer?
ENST00000388922.9:c.988_994dup MANE Select	ENSP00000373574.4:p.Lys332ArgfsTer?
ENST00000388922.8:c.988_994dup	ENSP00000373574.4:p.Lys332ArgfsTer?
ENST00000419526.6:c.466_472dup	ENSP00000392492.2:p.Lys158ArgfsTer?
ENST00000550683.5:c.1030_1036dup	ENSP00000447884.1:p.Lys346ArgfsTer?
NM_000020.2:c.988_994dup , LRG_543t1:c.988_994dup	NP_000011.2:p.Lys332ArgfsTer?
NM_001077401.1:c.988_994dup	NP_001070869.1:p.Lys332ArgfsTer?
XM_005269235.2:c.988_994dup	XP_005269292.1:p.Lys332ArgfsTer?
XM_011539008.1:c.718_724dup	XP_011537310.1:p.Lys242ArgfsTer?
XM_024449279.1:c.199_205dup	XP_024305047.1:p.Lys69ArgfsTer?
NM_000020.3:c.988_994dup MANE Select	NP_000011.2:p.Lys332ArgfsTer?
NM_001077401.2:c.988_994dup	NP_001070869.1:p.Lys332ArgfsTer?