Canonical Allele Identifier: CA2695216203
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878983_32878986delinsAAATCATCTACAACCA , CM000674.2:g.32878983_32878986delinsAAATCATCTACAACCA GRCh38
NC_000012.11:g.33031917_33031920delinsAAATCATCTACAACCA , CM000674.1:g.33031917_33031920delinsAAATCATCTACAACCA GRCh37
NC_000012.10:g.32923184_32923187delinsAAATCATCTACAACCA NCBI36
NG_009000.1:g.22861_22864delinsTGGTTGTAGATGATTT , LRG_398:g.22861_22864delinsTGGTTGTAGATGATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.270_273delinsTGGTTGTAGATGATTT ENSP00000515065.2:p.Leu91GlyfsTer4
ENST00000700563.2:c.270_273delinsTGGTTGTAGATGATTT ENSP00000515066.2:p.Leu91GlyfsTer4
ENST00000700563.1:c.224_227delinsTGGTTGTAGATGATTT
ENST00000700564.1:n.274_277delinsTGGTTGTAGATGATTT
ENST00000700565.1:n.123_126delinsTGGTTGTAGATGATTT
ENST00000070846.11:c.270_273delinsTGGTTGTAGATGATTT ENSP00000070846.6:p.Leu91GlyfsTer4
ENST00000340811.9:c.270_273delinsTGGTTGTAGATGATTT MANE Select ENSP00000342800.5:p.Leu91GlyfsTer4
ENST00000070846.10:c.270_273delinsTGGTTGTAGATGATTT ENSP00000070846.6:p.Leu91GlyfsTer4
ENST00000340811.8:c.270_273delinsTGGTTGTAGATGATTT ENSP00000342800.4:p.Leu91GlyfsTer4
ENST00000613243.1:c.270_273delinsTGGTTGTAGATGATTT ENSP00000478295.1:p.Leu91GlyfsTer4
NM_001005242.2:c.270_273delinsTGGTTGTAGATGATTT NP_001005242.2:p.Leu91GlyfsTer4
NM_004572.3:c.270_273delinsTGGTTGTAGATGATTT , LRG_398t1:c.270_273delinsTGGTTGTAGATGATTT NP_004563.2:p.Leu91GlyfsTer4
NM_001005242.3:c.270_273delinsTGGTTGTAGATGATTT MANE Select NP_001005242.2:p.Leu91GlyfsTer4
NM_004572.4:c.270_273delinsTGGTTGTAGATGATTT NP_004563.2:p.Leu91GlyfsTer4