Canonical Allele Identifier: CA594706062

Gene: CDH23

Linked Data

• dbSNP Id: rs1309777841
• gnomAD v2: 10-73544516-TTC-T
• gnomAD v3: 10-71784759-TTC-T
• gnomAD v4: 10-71784759-TTC-T
• MyVariant Identifiers: chr10:g.73544517_73544518del (hg19) ; chr10:g.71784760_71784761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784763_71784764del , CM000672.2:g.71784763_71784764del	GRCh38
NC_000010.10:g.73544520_73544521del , CM000672.1:g.73544520_73544521del	GRCh37
NC_000010.9:g.73214526_73214527del	NCBI36
NG_008835.1:g.392817_392818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5503-128_5503-127del MANE Select	ENSP00000224721.9:n.5503-128_5503-127del
ENST00000224721.10:c.5518-128_5518-127del	ENSP00000224721.8:n.5518-128_5518-127del
ENST00000622827.4:c.5503-128_5503-127del	ENSP00000483211.1:n.5503-128_5503-127del
NM_022124.5:c.5503-128_5503-127del	NP_071407.4:n.5503-128_5503-127del
XM_006717940.2:c.5698-128_5698-127del	XP_006718003.1:n.5698-128_5698-127del
XM_006717942.2:c.5632-128_5632-127del	XP_006718005.1:n.5632-128_5632-127del
XM_011540039.1:c.5695-128_5695-127del	XP_011538341.1:n.5695-128_5695-127del
XM_011540040.1:c.5692-128_5692-127del	XP_011538342.1:n.5692-128_5692-127del
XM_011540041.1:c.5638-128_5638-127del	XP_011538343.1:n.5638-128_5638-127del
XM_011540042.1:c.5698-128_5698-127del	XP_011538344.1:n.5698-128_5698-127del
XM_011540043.1:c.5698-128_5698-127del	XP_011538345.1:n.5698-128_5698-127del
XM_011540044.1:c.5563-128_5563-127del	XP_011538346.1:n.5563-128_5563-127del
XM_011540045.1:c.5698-128_5698-127del	XP_011538347.1:n.5698-128_5698-127del
XM_011540046.1:c.5158-128_5158-127del	XP_011538348.1:n.5158-128_5158-127del
XM_011540047.1:c.4516-128_4516-127del	XP_011538349.1:n.4516-128_4516-127del
XM_011540048.1:c.5698-128_5698-127del	XP_011538350.1:n.5698-128_5698-127del
XM_011540049.1:c.5698-128_5698-127del	XP_011538351.1:n.5698-128_5698-127del
XM_011540050.1:c.5698-128_5698-127del	XP_011538352.1:n.5698-128_5698-127del
XM_011540051.1:c.5698-128_5698-127del	XP_011538353.1:n.5698-128_5698-127del
XM_011540052.1:c.2026-128_2026-127del	XP_011538354.1:n.2026-128_2026-127del
XM_011540053.1:c.5698-128_5698-127del	XP_011538355.1:n.5698-128_5698-127del
XR_945796.1:n.5941-128_5941-127del
NM_022124.6:c.5503-128_5503-127del MANE Select	NP_071407.4:n.5503-128_5503-127del