Canonical Allele Identifier: CA222974
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870758_137870761del , CM000667.2:g.137870758_137870761del GRCh38
NC_000005.9:g.137206447_137206450del , CM000667.1:g.137206447_137206450del GRCh37
NC_000005.8:g.137234346_137234349del NCBI36
NG_008894.1:g.7903_7906del , LRG_201:g.7903_7906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.107_110del (MYOT) MANE Select ENSP00000239926.4:p.Lys36SerfsTer22
ENST00000239926.8:c.107_110del (MYOT) ENSP00000239926.4:p.Lys36SerfsTer22
ENST00000421631.6:c.-197+233_-197+236del (MYOT) ENSP00000391185.2:n.-197+233_-197+236del
ENST00000509812.5:n.179+233_179+236del (MYOT)
ENST00000511625.5:n.179+233_179+236del (MYOT)
ENST00000515645.1:c.-120-119_-120-116del (MYOT) ENSP00000426281.1:n.-120-119_-120-116del
NM_001135940.1:c.-197+233_-197+236del (MYOT) NP_001129412.1:n.-197+233_-197+236del
NM_001300911.1:c.-120-119_-120-116del (MYOT) NP_001287840.1:n.-120-119_-120-116del
NM_006790.2:c.107_110del , LRG_201t1:c.107_110del (MYOT) NP_006781.1:p.Lys36SerfsTer22
XR_948815.1:n.220-11496_220-11493del (PKD2L2-DT)
XR_948816.1:n.58-11496_58-11493del (PKD2L2-DT)
XM_017010060.1:c.-355-119_-355-116del (MYOT) XP_016865549.1:n.-355-119_-355-116del
XM_017010061.1:c.-474_-471del (MYOT) XP_016865550.1:n.-474_-471del
XM_017010062.1:c.-225+233_-225+236del (MYOT) XP_016865551.1:n.-225+233_-225+236del
XR_948815.2:n.347-11496_347-11493del (PKD2L2-DT)
NM_001135940.2:c.-197+233_-197+236del (MYOT) NP_001129412.1:n.-197+233_-197+236del
NM_001300911.2:c.-120-119_-120-116del (MYOT) NP_001287840.1:n.-120-119_-120-116del
NM_006790.3:c.107_110del (MYOT) MANE Select NP_006781.1:p.Lys36SerfsTer22
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