Canonical Allele Identifier: CA1031867157

Gene: PROKR1 APLF

Linked Data

• dbSNP Id: rs1673369583
• gnomAD v3: 2-68653072-A-AGCAGAATGTCTTAACTCTCCATTTTCATTGTGAGTCAGGGCGAGTTTGAGGCTCTGGTTAC
• gnomAD v4: 2-68653072-A-AGCAGAATGTCTTAACTCTCCATTTTCATTGTGAGTCAGGGCGAGTTTGAGGCTCTGGTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68653073_68653133dup , CM000664.2:g.68653073_68653133dup	GRCh38
NC_000002.11:g.68880205_68880265dup , CM000664.1:g.68880205_68880265dup	GRCh37
NC_000002.10:g.68733709_68733769dup	NCBI36
NG_051312.1:g.14486_14546dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303786.5:c.486-1807_486-1747dup (PROKR1) MANE Select	ENSP00000303775.4:n.486-1807_486-1747dup
ENST00000303786.4:c.486-1807_486-1747dup (PROKR1)	ENSP00000303775.3:n.486-1807_486-1747dup
ENST00000394342.2:c.486-1807_486-1747dup (APLF)	ENSP00000377874.2:n.486-1807_486-1747dup
ENST00000627740.1:n.1198-1807_1198-1747dup (APLF)
NM_138964.2:c.486-1807_486-1747dup (PROKR1)	NP_620414.1:n.486-1807_486-1747dup
NM_138964.3:c.486-1807_486-1747dup (PROKR1)	NP_620414.1:n.486-1807_486-1747dup
NM_138964.4:c.486-1807_486-1747dup (PROKR1) MANE Select	NP_620414.1:n.486-1807_486-1747dup