Canonical Allele Identifier: CA2618856035

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912533-A-AGTACTCACCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912534_51912535insTACTCACCCTG , CM000674.2:g.51912534_51912535insTACTCACCCTG	GRCh38
NC_000012.11:g.52306318_52306319insTACTCACCCTG , CM000674.1:g.52306318_52306319insTACTCACCCTG	GRCh37
NC_000012.10:g.50592585_50592586insTACTCACCCTG	NCBI36
NG_009549.1:g.10117_10118insTACTCACCCTG , LRG_543:g.10117_10118insTACTCACCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.102_103insTACTCACCCTG	ENSP00000446724.2:p.Gly35TyrfsTer8
ENST00000551576.6:c.60_61insTACTCACCCTG	ENSP00000455848.2:p.Gly21TyrfsTer8
ENST00000552678.2:c.60_61insTACTCACCCTG	ENSP00000457394.2:p.Gly21TyrfsTer8
ENST00000388922.9:c.60_61insTACTCACCCTG MANE Select	ENSP00000373574.4:p.Gly21TyrfsTer8
ENST00000388922.8:c.60_61insTACTCACCCTG	ENSP00000373574.4:p.Gly21TyrfsTer8
ENST00000419526.6:c.102_103insTACTCACCCTG	ENSP00000392492.2:p.Gly35TyrfsTer?
ENST00000547400.5:c.102_103insTACTCACCCTG	ENSP00000446724.1:p.Gly35TyrfsTer8
ENST00000550683.5:c.102_103insTACTCACCCTG	ENSP00000447884.1:p.Gly35TyrfsTer8
ENST00000551576.5:c.60_61insTACTCACCCTG	ENSP00000455848.1:p.Gly21TyrfsTer8
NM_000020.2:c.60_61insTACTCACCCTG , LRG_543t1:c.60_61insTACTCACCCTG	NP_000011.2:p.Gly21TyrfsTer8
NM_001077401.1:c.60_61insTACTCACCCTG	NP_001070869.1:p.Gly21TyrfsTer8
XM_005269235.2:c.60_61insTACTCACCCTG	XP_005269292.1:p.Gly21TyrfsTer8
XM_011539008.1:c.102_103insTACTCACCCTG	XP_011537310.1:p.Gly35TyrfsTer8
NM_000020.3:c.60_61insTACTCACCCTG MANE Select	NP_000011.2:p.Gly21TyrfsTer8
NM_001077401.2:c.60_61insTACTCACCCTG	NP_001070869.1:p.Gly21TyrfsTer8