Canonical Allele Identifier: CA236368113

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1048608697
• gnomAD v3: 12-51921281-CCA-C
• gnomAD v4: 12-51921281-CCA-C
• MyVariant Identifiers: chr12:g.52315066_52315067del (hg19) ; chr12:g.51921282_51921283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921283_51921284del , CM000674.2:g.51921283_51921284del	GRCh38
NC_000012.11:g.52315067_52315068del , CM000674.1:g.52315067_52315068del	GRCh37
NC_000012.10:g.50601334_50601335del	NCBI36
NG_009549.1:g.18866_18867del , LRG_543:g.18866_18867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*390_*391del	ENSP00000455848.2:n.*390_*391del
ENST00000388922.9:c.*390_*391del MANE Select	ENSP00000373574.4:n.*390_*391del
ENST00000550683.5:c.*390_*391del	ENSP00000447884.1:n.*390_*391del
NM_000020.2:c.*390_*391del , LRG_543t1:c.*390_*391del	NP_000011.2:n.*390_*391del
NM_001077401.1:c.*390_*391del	NP_001070869.1:n.*390_*391del
XM_005269235.2:c.*390_*391del	XP_005269292.1:n.*390_*391del
XM_011539008.1:c.*390_*391del	XP_011537310.1:n.*390_*391del
XM_024449279.1:c.*390_*391del	XP_024305047.1:n.*390_*391del
NM_000020.3:c.*390_*391del MANE Select	NP_000011.2:n.*390_*391del
NM_001077401.2:c.*390_*391del	NP_001070869.1:n.*390_*391del