Canonical Allele Identifier: CA71515799

Gene: GADL1

Linked Data

• dbSNP Id: rs947439812
• gnomAD v2: 3-30886705-TAA-T
• gnomAD v3: 3-30845213-TAA-T
• gnomAD v4: 3-30845213-TAA-T
• MyVariant Identifiers: chr3:g.30886706_30886707del (hg19) ; chr3:g.30845214_30845215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30845214_30845215del , CM000665.2:g.30845214_30845215del	GRCh38
NC_000003.11:g.30886706_30886707del , CM000665.1:g.30886706_30886707del	GRCh37
NC_000003.10:g.30861710_30861711del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282538.10:c.652-749_652-748del MANE Select	ENSP00000282538.5:n.652-749_652-748del
ENST00000282538.9:c.652-749_652-748del	ENSP00000282538.5:n.652-749_652-748del
ENST00000454381.3:c.652-749_652-748del	ENSP00000427059.1:n.652-749_652-748del
NM_207359.2:c.652-749_652-748del	NP_997242.2:n.652-749_652-748del
XM_017006297.1:c.595-749_595-748del	XP_016861786.1:n.595-749_595-748del
XM_017006298.1:c.-7-951_-7-950del	XP_016861787.1:n.-7-951_-7-950del
NM_207359.3:c.652-749_652-748del MANE Select	NP_997242.2:n.652-749_652-748del