Canonical Allele Identifier: CA2830782656

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870662_137870679del , CM000667.2:g.137870662_137870679del	GRCh38
NC_000005.9:g.137206351_137206368del , CM000667.1:g.137206351_137206368del	GRCh37
NC_000005.8:g.137234250_137234267del	NCBI36
NG_008894.1:g.7807_7824del , LRG_201:g.7807_7824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.11_28del (MYOT) MANE Select	ENSP00000239926.4:p.Tyr4_His9del
ENST00000239926.8:c.11_28del (MYOT)	ENSP00000239926.4:p.Tyr4_His9del
ENST00000421631.6:c.-197+137_-197+154del (MYOT)	ENSP00000391185.2:n.-197+137_-197+154del
ENST00000509812.5:n.179+137_179+154del (MYOT)
ENST00000511625.5:n.179+137_179+154del (MYOT)
ENST00000515645.1:c.-121+137_-121+154del (MYOT)	ENSP00000426281.1:n.-121+137_-121+154del
NM_001135940.1:c.-197+137_-197+154del (MYOT)	NP_001129412.1:n.-197+137_-197+154del
NM_001300911.1:c.-121+137_-121+154del (MYOT)	NP_001287840.1:n.-121+137_-121+154del
NM_006790.2:c.11_28del , LRG_201t1:c.11_28del (MYOT)	NP_006781.1:p.Tyr4_His9del
XR_948815.1:n.220-11413_220-11396del (PKD2L2-DT)
XR_948816.1:n.58-11413_58-11396del (PKD2L2-DT)
XM_017010060.1:c.-356+137_-356+154del (MYOT)	XP_016865549.1:n.-356+137_-356+154del
XM_017010062.1:c.-225+137_-225+154del (MYOT)	XP_016865551.1:n.-225+137_-225+154del
XR_948815.2:n.347-11413_347-11396del (PKD2L2-DT)
NM_001135940.2:c.-197+137_-197+154del (MYOT)	NP_001129412.1:n.-197+137_-197+154del
NM_001300911.2:c.-121+137_-121+154del (MYOT)	NP_001287840.1:n.-121+137_-121+154del
NM_006790.3:c.11_28del (MYOT) MANE Select	NP_006781.1:p.Tyr4_His9del