Canonical Allele Identifier: CA2695199538

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71797212_71797213del , CM000672.2:g.71797212_71797213del	GRCh38
NC_000010.10:g.73556969_73556970del , CM000672.1:g.73556969_73556970del	GRCh37
NC_000010.9:g.73226975_73226976del	NCBI36
NG_008835.1:g.405266_405267del

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.6821_6822del MANE Select	NP_071407.4:p.Val2274AlafsTer14
ENST00000224721.12:c.6821_6822del MANE Select	ENSP00000224721.9:p.Val2274AlafsTer14
NM_001171933.1:c.101_102del	NP_001165404.1:p.Val34AlafsTer14
NM_001171934.1:c.101_102del	NP_001165405.1:p.Val34AlafsTer14
NM_022124.5:c.6821_6822del	NP_071407.4:p.Val2274AlafsTer14
ENST00000224721.10:c.6836_6837del	ENSP00000224721.8:p.Val2279AlafsTer14
ENST00000398788.4:c.101_102del	ENSP00000381768.3:p.Val34AlafsTer14
ENST00000475158.1:n.357_358del
ENST00000619887.4:c.101_102del	ENSP00000478374.1:p.Val34AlafsTer14
ENST00000622827.4:c.6821_6822del	ENSP00000483211.1:p.Val2274AlafsTer14
ENST00000642965.1:c.754_755del	ENSP00000495222.1:n.754_755del
ENST00000647092.1:c.418_419del	ENSP00000495176.1:n.418_419del
XM_006717940.2:c.7016_7017del	XP_006718003.1:p.Val2339AlafsTer14
XM_006717942.2:c.6950_6951del	XP_006718005.1:p.Val2317AlafsTer14
XM_011540039.1:c.7013_7014del	XP_011538341.1:p.Val2338AlafsTer14
XM_011540040.1:c.7010_7011del	XP_011538342.1:p.Val2337AlafsTer14
XM_011540041.1:c.6956_6957del	XP_011538343.1:p.Val2319AlafsTer14
XM_011540042.1:c.6926_6927del	XP_011538344.1:p.Val2309AlafsTer14
XM_011540043.1:c.7016_7017del	XP_011538345.1:p.Val2339AlafsTer14
XM_011540044.1:c.6881_6882del	XP_011538346.1:p.Val2294AlafsTer14
XM_011540045.1:c.7016_7017del	XP_011538347.1:p.Val2339AlafsTer14
XM_011540046.1:c.6476_6477del	XP_011538348.1:p.Val2159AlafsTer14
XM_011540047.1:c.5834_5835del	XP_011538349.1:p.Val1945AlafsTer14
XM_011540052.1:c.3344_3345del	XP_011538354.1:p.Val1115AlafsTer14