Canonical Allele Identifier: CA2675426980
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Linked Data

gnomAD v4: 5-137870700-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870701del , CM000667.2:g.137870701del GRCh38
NC_000005.9:g.137206390del , CM000667.1:g.137206390del GRCh37
NC_000005.8:g.137234289del NCBI36
NG_008894.1:g.7846del , LRG_201:g.7846del

Transcript Alleles

HGVS Amino-acid change
ENST00000239926.9:c.50del (MYOT) MANE Select ENSP00000239926.4:p.Cys17LeufsTer?
ENST00000239926.8:c.50del (MYOT) ENSP00000239926.4:p.Cys17LeufsTer?
ENST00000421631.6:c.-197+176del (MYOT) ENSP00000391185.2:n.-197+176del
ENST00000509812.5:n.179+176del (MYOT)
ENST00000511625.5:n.179+176del (MYOT)
ENST00000515645.1:c.-120-176del (MYOT) ENSP00000426281.1:n.-120-176del
NM_001135940.1:c.-197+176del (MYOT) NP_001129412.1:n.-197+176del
NM_001300911.1:c.-120-176del (MYOT) NP_001287840.1:n.-120-176del
NM_006790.2:c.50del , LRG_201t1:c.50del (MYOT) NP_006781.1:p.Cys17LeufsTer?
XR_948815.1:n.220-11438del (PKD2L2-DT)
XR_948816.1:n.58-11438del (PKD2L2-DT)
XM_017010060.1:c.-355-176del (MYOT) XP_016865549.1:n.-355-176del
XM_017010061.1:c.-531del (MYOT) XP_016865550.1:n.-531del
XM_017010062.1:c.-225+176del (MYOT) XP_016865551.1:n.-225+176del
XR_948815.2:n.347-11438del (PKD2L2-DT)
NM_001135940.2:c.-197+176del (MYOT) NP_001129412.1:n.-197+176del
NM_001300911.2:c.-120-176del (MYOT) NP_001287840.1:n.-120-176del
NM_006790.3:c.50del (MYOT) MANE Select NP_006781.1:p.Cys17LeufsTer?
Search 100 bp 5'
Search 100 bp 3'