Canonical Allele Identifier: CA543597832
Gene: PROK2 HGNC NCBI

Linked Data

dbSNP Id: rs1348761523
gnomAD v2: 3-71833968-AG-A
gnomAD v3: 3-71784817-AG-A
gnomAD v4: 3-71784817-AG-A
MyVariant Identifiers: chr3:g.71833969del (hg19) chr3:g.71784818del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71784821del , CM000665.2:g.71784821del GRCh38
NC_000003.11:g.71833972del , CM000665.1:g.71833972del GRCh37
NC_000003.10:g.71916662del NCBI36
NG_008275.1:g.5389del

Transcript Alleles

HGVS Amino-acid change
ENST00000295619.4:c.96+139del MANE Select ENSP00000295619.3:n.96+139del
ENST00000295619.3:c.96+139del ENSP00000295619.3:n.96+139del
ENST00000353065.7:c.96+139del ENSP00000295618.3:n.96+139del
NM_001126128.1:c.96+139del NP_001119600.1:n.96+139del
NM_021935.3:c.96+139del NP_068754.1:n.96+139del
NM_001126128.2:c.96+139del MANE Select NP_001119600.1:n.96+139del
NM_021935.4:c.96+139del NP_068754.1:n.96+139del
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