Canonical Allele Identifier: CA1585606848
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870654_137870655delinsGT , CM000667.2:g.137870654_137870655delinsGT GRCh38
NC_000005.9:g.137206343_137206344delinsGT , CM000667.1:g.137206343_137206344delinsGT GRCh37
NC_000005.8:g.137234242_137234243delinsGT NCBI36
NG_008894.1:g.7799_7800delinsGT , LRG_201:g.7799_7800delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.3_4delinsGT (MYOT) MANE Select ENSP00000239926.4:p.Met1=
ENST00000239926.8:c.3_4delinsGT (MYOT) ENSP00000239926.4:p.Met1=
ENST00000421631.6:c.-197+129_-197+130delinsGT (MYOT) ENSP00000391185.2:n.-197+129_-197+130delinsGT
ENST00000509812.5:n.179+129_179+130delinsGT (MYOT)
ENST00000511625.5:n.179+129_179+130delinsGT (MYOT)
ENST00000515645.1:c.-121+129_-121+130delinsGT (MYOT) ENSP00000426281.1:n.-121+129_-121+130delinsGT
NM_001135940.1:c.-197+129_-197+130delinsGT (MYOT) NP_001129412.1:n.-197+129_-197+130delinsGT
NM_001300911.1:c.-121+129_-121+130delinsGT (MYOT) NP_001287840.1:n.-121+129_-121+130delinsGT
NM_006790.2:c.3_4delinsGT , LRG_201t1:c.3_4delinsGT (MYOT) NP_006781.1:p.Met1=
XR_948815.1:n.220-11392_220-11391delinsAC (PKD2L2-DT)
XR_948816.1:n.58-11392_58-11391delinsAC (PKD2L2-DT)
XM_017010060.1:c.-356+129_-356+130delinsGT (MYOT) XP_016865549.1:n.-356+129_-356+130delinsGT
XM_017010062.1:c.-225+129_-225+130delinsGT (MYOT) XP_016865551.1:n.-225+129_-225+130delinsGT
XR_948815.2:n.347-11392_347-11391delinsAC (PKD2L2-DT)
NM_001135940.2:c.-197+129_-197+130delinsGT (MYOT) NP_001129412.1:n.-197+129_-197+130delinsGT
NM_001300911.2:c.-121+129_-121+130delinsGT (MYOT) NP_001287840.1:n.-121+129_-121+130delinsGT
NM_006790.3:c.3_4delinsGT (MYOT) MANE Select NP_006781.1:p.Met1=