Canonical Allele Identifier: CA2695199526

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2680508
• ClinVar RCV Id: RCV003474537

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793239_71793272delinsCCA , CM000672.2:g.71793239_71793272delinsCCA	GRCh38
NC_000010.10:g.73552996_73553029delinsCCA , CM000672.1:g.73552996_73553029delinsCCA	GRCh37
NC_000010.9:g.73223002_73223035delinsCCA	NCBI36
NG_008835.1:g.401293_401326delinsCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6311_6344delinsCCA MANE Select	ENSP00000224721.9:p.Leu2104ProfsTer29
ENST00000224721.10:c.6326_6359delinsCCA	ENSP00000224721.8:p.Leu2109ProfsTer29
ENST00000622827.4:c.6311_6344delinsCCA	ENSP00000483211.1:p.Leu2104ProfsTer29
NM_022124.5:c.6311_6344delinsCCA	NP_071407.4:p.Leu2104ProfsTer29
XM_006717940.2:c.6506_6539delinsCCA	XP_006718003.1:p.Leu2169ProfsTer29
XM_006717942.2:c.6440_6473delinsCCA	XP_006718005.1:p.Leu2147ProfsTer29
XM_011540039.1:c.6503_6536delinsCCA	XP_011538341.1:p.Leu2168ProfsTer29
XM_011540040.1:c.6500_6533delinsCCA	XP_011538342.1:p.Leu2167ProfsTer29
XM_011540041.1:c.6446_6479delinsCCA	XP_011538343.1:p.Leu2149ProfsTer29
XM_011540042.1:c.6506_6539delinsCCA	XP_011538344.1:p.Leu2169ProfsTer20
XM_011540043.1:c.6506_6539delinsCCA	XP_011538345.1:p.Leu2169ProfsTer29
XM_011540044.1:c.6371_6404delinsCCA	XP_011538346.1:p.Leu2124ProfsTer29
XM_011540045.1:c.6506_6539delinsCCA	XP_011538347.1:p.Leu2169ProfsTer29
XM_011540046.1:c.5966_5999delinsCCA	XP_011538348.1:p.Leu1989ProfsTer29
XM_011540047.1:c.5324_5357delinsCCA	XP_011538349.1:p.Leu1775ProfsTer29
XM_011540048.1:c.6506_6539delinsCCA	XP_011538350.1:p.Leu2169ProfsTer29
XM_011540049.1:c.6506_6539delinsCCA	XP_011538351.1:p.Leu2169ProfsTer29
XM_011540050.1:c.6506_6539delinsCCA	XP_011538352.1:p.Leu2169ProfsTer29
XM_011540051.1:c.6506_6539delinsCCA	XP_011538353.1:p.Leu2169ProfsTer29
XM_011540052.1:c.2834_2867delinsCCA	XP_011538354.1:p.Leu945ProfsTer29
XR_945796.1:n.6749_6782delinsCCA
NM_022124.6:c.6311_6344delinsCCA MANE Select	NP_071407.4:p.Leu2104ProfsTer29