Canonical Allele Identifier: CA2739289884
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721954_42721963delinsTCAGCTT , CM000668.2:g.42721954_42721963delinsTCAGCTT GRCh38
NC_000006.11:g.42689692_42689701delinsTCAGCTT , CM000668.1:g.42689692_42689701delinsTCAGCTT GRCh37
NC_000006.10:g.42797670_42797679delinsTCAGCTT NCBI36
NG_009176.1:g.5658_5667delinsAAGCTGA
NG_009176.2:g.5658_5667delinsAAGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.372_381delinsAAGCTGA MANE Select ENSP00000230381.5:p.Gly126Ter
ENST00000230381.6:c.372_381delinsAAGCTGA ENSP00000230381.5:p.Gly126Ter
NM_000322.4:c.372_381delinsAAGCTGA NP_000313.2:p.Gly126Ter
XR_427834.2:n.1027_1036delinsAAGCTGA
XR_926295.1:n.1027_1036delinsAAGCTGA
XR_427834.4:n.1077_1086delinsAAGCTGA
XR_926295.3:n.1077_1086delinsAAGCTGA
NM_000322.5:c.372_381delinsAAGCTGA MANE Select NP_000313.2:p.Gly126Ter
Search 100 bp 5'
Search 100 bp 3'