Canonical Allele Identifier: CA783914973

Gene: GDF15

Linked Data

• dbSNP Id: rs1267707753
• gnomAD v4: 19-18388610-ACCACTGT-A
• MyVariant Identifiers: chr19:g.18499421_18499427del (hg19) ; chr19:g.18388611_18388617del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18388613_18388619del , CM000681.2:g.18388613_18388619del	GRCh38
NC_000019.9:g.18499423_18499429del , CM000681.1:g.18499423_18499429del	GRCh37
NC_000019.8:g.18360423_18360429del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595973.3:c.605_611del	ENSP00000470531.3:p.His202ArgfsTer?
ENST00000597765.2:c.605_611del	ENSP00000469819.2:p.His202ArgfsTer?
ENST00000252809.3:c.605_611del MANE Select	ENSP00000252809.3:p.His202ArgfsTer?
NM_004864.2:c.605_611del	NP_004855.2:p.His202ArgfsTer?
NM_004864.3:c.605_611del	NP_004855.2:p.His202ArgfsTer?
XM_024451789.1:c.605_611del	XP_024307557.1:p.His202ArgfsTer?
NM_004864.4:c.605_611del MANE Select	NP_004855.2:p.His202ArgfsTer?