Canonical Allele Identifier: CA2675426965

Gene: MYOT PKD2L2-DT

Linked Data

• gnomAD v4: 5-137870618-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870620del , CM000667.2:g.137870620del	GRCh38
NC_000005.9:g.137206309del , CM000667.1:g.137206309del	GRCh37
NC_000005.8:g.137234208del	NCBI36
NG_008894.1:g.7765del , LRG_201:g.7765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.-32del (MYOT) MANE Select	ENSP00000239926.4:n.-32del
ENST00000239926.8:c.-32del (MYOT)	ENSP00000239926.4:n.-32del
ENST00000421631.6:c.-197+95del (MYOT)	ENSP00000391185.2:n.-197+95del
ENST00000509812.5:n.179+95del (MYOT)
ENST00000511625.5:n.179+95del (MYOT)
ENST00000515645.1:c.-121+95del (MYOT)	ENSP00000426281.1:n.-121+95del
NM_001135940.1:c.-197+95del (MYOT)	NP_001129412.1:n.-197+95del
NM_001300911.1:c.-121+95del (MYOT)	NP_001287840.1:n.-121+95del
NM_006790.2:c.-32del , LRG_201t1:c.-32del (MYOT)	NP_006781.1:n.-32del
XR_948815.1:n.220-11356del (PKD2L2-DT)
XR_948816.1:n.58-11356del (PKD2L2-DT)
XM_017010060.1:c.-356+95del (MYOT)	XP_016865549.1:n.-356+95del
XM_017010062.1:c.-225+95del (MYOT)	XP_016865551.1:n.-225+95del
XR_948815.2:n.347-11356del (PKD2L2-DT)
NM_001135940.2:c.-197+95del (MYOT)	NP_001129412.1:n.-197+95del
NM_001300911.2:c.-121+95del (MYOT)	NP_001287840.1:n.-121+95del
NM_006790.3:c.-32del (MYOT) MANE Select	NP_006781.1:n.-32del