Canonical Allele Identifier: CA2770821291
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721822_42721823insTTTG , CM000668.2:g.42721822_42721823insTTTG GRCh38
NC_000006.11:g.42689560_42689561insTTTG , CM000668.1:g.42689560_42689561insTTTG GRCh37
NC_000006.10:g.42797538_42797539insTTTG NCBI36
NG_009176.1:g.5798_5799insCAAA
NG_009176.2:g.5798_5799insCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.512_513insCAAA MANE Select ENSP00000230381.5:p.Arg172LysfsTer6
ENST00000230381.6:c.512_513insCAAA ENSP00000230381.5:p.Arg172LysfsTer6
NM_000322.4:c.512_513insCAAA NP_000313.2:p.Arg172LysfsTer6
XR_427834.2:n.1167_1168insCAAA
XR_926295.1:n.1167_1168insCAAA
XR_427834.4:n.1217_1218insCAAA
XR_926295.3:n.1217_1218insCAAA
NM_000322.5:c.512_513insCAAA MANE Select NP_000313.2:p.Arg172LysfsTer6
Search 100 bp 5'
Search 100 bp 3'