Canonical Allele Identifier: CA1585606878

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870736_137870737delinsTC , CM000667.2:g.137870736_137870737delinsTC	GRCh38
NC_000005.9:g.137206425_137206426delinsTC , CM000667.1:g.137206425_137206426delinsTC	GRCh37
NC_000005.8:g.137234324_137234325delinsTC	NCBI36
NG_008894.1:g.7881_7882delinsTC , LRG_201:g.7881_7882delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.85_86delinsTC (MYOT) MANE Select	ENSP00000239926.4:p.Ser29=
ENST00000239926.8:c.85_86delinsTC (MYOT)	ENSP00000239926.4:p.Ser29=
ENST00000421631.6:c.-197+211_-197+212delinsTC (MYOT)	ENSP00000391185.2:n.-197+211_-197+212delinsTC
ENST00000509812.5:n.179+211_179+212delinsTC (MYOT)
ENST00000511625.5:n.179+211_179+212delinsTC (MYOT)
ENST00000515645.1:c.-120-141_-120-140delinsTC (MYOT)	ENSP00000426281.1:n.-120-141_-120-140delinsTC
NM_001135940.1:c.-197+211_-197+212delinsTC (MYOT)	NP_001129412.1:n.-197+211_-197+212delinsTC
NM_001300911.1:c.-120-141_-120-140delinsTC (MYOT)	NP_001287840.1:n.-120-141_-120-140delinsTC
NM_006790.2:c.85_86delinsTC , LRG_201t1:c.85_86delinsTC (MYOT)	NP_006781.1:p.Ser29=
XR_948815.1:n.220-11474_220-11473delinsGA (PKD2L2-DT)
XR_948816.1:n.58-11474_58-11473delinsGA (PKD2L2-DT)
XM_017010060.1:c.-355-141_-355-140delinsTC (MYOT)	XP_016865549.1:n.-355-141_-355-140delinsTC
XM_017010061.1:c.-496_-495delinsTC (MYOT)	XP_016865550.1:n.-496_-495delinsTC
XM_017010062.1:c.-225+211_-225+212delinsTC (MYOT)	XP_016865551.1:n.-225+211_-225+212delinsTC
XR_948815.2:n.347-11474_347-11473delinsGA (PKD2L2-DT)
NM_001135940.2:c.-197+211_-197+212delinsTC (MYOT)	NP_001129412.1:n.-197+211_-197+212delinsTC
NM_001300911.2:c.-120-141_-120-140delinsTC (MYOT)	NP_001287840.1:n.-120-141_-120-140delinsTC
NM_006790.3:c.85_86delinsTC (MYOT) MANE Select	NP_006781.1:p.Ser29=