Canonical Allele Identifier: CA2676774558
Gene: PROP1 HGNC NCBI

Linked Data

gnomAD v4: 5-177992760-T-TGGGGGGGTGTTGGGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992766_177992767insGTGTTGGGGGGGGGGGGGGGGG , CM000667.2:g.177992766_177992767insGTGTTGGGGGGGGGGGGGGGGG GRCh38
NC_000005.9:g.177419767_177419768insGTGTTGGGGGGGGGGGGGGGGG , CM000667.1:g.177419767_177419768insGTGTTGGGGGGGGGGGGGGGGG GRCh37
NC_000005.8:g.177352373_177352374insGTGTTGGGGGGGGGGGGGGGGG NCBI36
NG_015889.1:g.8482_8483insCCCCCCCCCCCAACACCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.629_630insCCCCCCCCCCCAACACCCCCCC MANE Select ENSP00000311290.2:p.Met214GlnfsTer14
NM_006261.4:c.629_630insCCCCCCCCCCCAACACCCCCCC NP_006252.3:p.Met214GlnfsTer14
NM_006261.5:c.629_630insCCCCCCCCCCCAACACCCCCCC MANE Select NP_006252.4:p.Met214GlnfsTer14
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