Canonical Allele Identifier: CA2801053378

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885865_30885866insCACACCCAACAC , CM000676.2:g.30885865_30885866insCACACCCAACAC	GRCh38
NC_000014.8:g.31355071_31355072insCACACCCAACAC , CM000676.1:g.31355071_31355072insCACACCCAACAC	GRCh37
NC_000014.7:g.30424822_30424823insCACACCCAACAC	NCBI36
NG_008211.2:g.16331_16332insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1225_1226insCACACCCAACAC	ENSP00000216361.5:p.Lys409delinsThrHisProThrGln
ENST00000396618.9:c.1030_1031insCACACCCAACAC MANE Select	ENSP00000379862.3:p.Lys344delinsThrHisProThrGln
ENST00000555117.2:c.1087_1088insCACACCCAACAC	ENSP00000493569.1:p.Lys363delinsThrHisProThrGln
ENST00000643575.1:c.1030_1031insCACACCCAACAC	ENSP00000494838.1:p.Lys344delinsThrHisProThrGln
ENST00000643697.1:n.1332_1333insCACACCCAACAC
ENST00000644874.2:c.1030_1031insCACACCCAACAC	ENSP00000496360.1:p.Lys344delinsThrHisProThrGln
ENST00000216361.8:c.1030_1031insCACACCCAACAC	ENSP00000216361.4:p.Lys344delinsThrHisProThrGln
ENST00000396618.7:c.1030_1031insCACACCCAACAC	ENSP00000379862.3:p.Lys344delinsThrHisProThrGln
ENST00000460581.6:c.694_695insCACACCCAACAC	ENSP00000451713.1:p.Lys232delinsThrHisProThrGln
ENST00000468826.2:c.681_682insCACACCCAACAC
ENST00000475087.5:c.1030_1031insCACACCCAACAC	ENSP00000451528.1:p.Lys344delinsThrHisProThrGln
NM_001135058.1:c.1030_1031insCACACCCAACAC	NP_001128530.1:p.Lys344delinsThrHisProThrGln
NM_004086.2:c.1030_1031insCACACCCAACAC	NP_004077.1:p.Lys344delinsThrHisProThrGln
NR_038356.1:n.999_1000insGTGTTGGGTGTG
XM_011536539.1:c.1030_1031insCACACCCAACAC	XP_011534841.1:p.Lys344delinsThrHisProThrGln
NM_001347720.1:c.1225_1226insCACACCCAACAC	NP_001334649.1:p.Lys409delinsThrHisProThrGln
XM_017021071.1:c.1225_1226insCACACCCAACAC	XP_016876560.1:p.Lys409delinsThrHisProThrGln
XM_024449506.1:c.1087_1088insCACACCCAACAC	XP_024305274.1:p.Lys363delinsThrHisProThrGln
NM_004086.3:c.1030_1031insCACACCCAACAC MANE Select	NP_004077.1:p.Lys344delinsThrHisProThrGln
NM_001135058.2:c.1030_1031insCACACCCAACAC	NP_001128530.1:p.Lys344delinsThrHisProThrGln
NM_001347720.2:c.1225_1226insCACACCCAACAC	NP_001334649.1:p.Lys409delinsThrHisProThrGln