Canonical Allele Identifier: CA594706072

Gene: CDH23

Linked Data

• dbSNP Id: rs1403470484
• gnomAD v2: 10-73544811-AC-A
• gnomAD v3: 10-71785054-AC-A
• gnomAD v4: 10-71785054-AC-A
• MyVariant Identifiers: chr10:g.73544812del (hg19) ; chr10:g.71785055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785055del , CM000672.2:g.71785055del	GRCh38
NC_000010.10:g.73544812del , CM000672.1:g.73544812del	GRCh37
NC_000010.9:g.73214818del	NCBI36
NG_008835.1:g.393109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5667del MANE Select	ENSP00000224721.9:p.Asn1889LysfsTer22
ENST00000224721.10:c.5682del	ENSP00000224721.8:p.Asn1894LysfsTer22
ENST00000622827.4:c.5667del	ENSP00000483211.1:p.Asn1889LysfsTer22
NM_022124.5:c.5667del	NP_071407.4:p.Asn1889LysfsTer22
XM_006717940.2:c.5862del	XP_006718003.1:p.Asn1954LysfsTer22
XM_006717942.2:c.5796del	XP_006718005.1:p.Asn1932LysfsTer22
XM_011540039.1:c.5859del	XP_011538341.1:p.Asn1953LysfsTer22
XM_011540040.1:c.5856del	XP_011538342.1:p.Asn1952LysfsTer22
XM_011540041.1:c.5802del	XP_011538343.1:p.Asn1934LysfsTer22
XM_011540042.1:c.5862del	XP_011538344.1:p.Asn1954LysfsTer22
XM_011540043.1:c.5862del	XP_011538345.1:p.Asn1954LysfsTer22
XM_011540044.1:c.5727del	XP_011538346.1:p.Asn1909LysfsTer22
XM_011540045.1:c.5862del	XP_011538347.1:p.Asn1954LysfsTer22
XM_011540046.1:c.5322del	XP_011538348.1:p.Asn1774LysfsTer22
XM_011540047.1:c.4680del	XP_011538349.1:p.Asn1560LysfsTer22
XM_011540048.1:c.5862del	XP_011538350.1:p.Asn1954LysfsTer22
XM_011540049.1:c.5862del	XP_011538351.1:p.Asn1954LysfsTer22
XM_011540050.1:c.5862del	XP_011538352.1:p.Asn1954LysfsTer22
XM_011540051.1:c.5862del	XP_011538353.1:p.Asn1954LysfsTer22
XM_011540052.1:c.2190del	XP_011538354.1:p.Asn730LysfsTer22
XM_011540053.1:c.5862del	XP_011538355.1:p.Asn1954LysfsTer22
XR_945796.1:n.6105del
NM_022124.6:c.5667del MANE Select	NP_071407.4:p.Asn1889LysfsTer22