Canonical Allele Identifier: CA2521257731

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886005_30886006insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA , CM000676.2:g.30886005_30886006insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	GRCh38
NC_000014.8:g.31355211_31355212insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA , CM000676.1:g.31355211_31355212insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	GRCh37
NC_000014.7:g.30424962_30424963insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NCBI36
NG_008211.2:g.16471_16472insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1365_1366insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000216361.5:p.Ser456ArgfsTer16
ENST00000396618.9:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA MANE Select	ENSP00000379862.3:p.Ser391ArgfsTer16
ENST00000555117.2:c.1227_1228insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000493569.1:p.Ser410ArgfsTer16
ENST00000643575.1:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000494838.1:p.Ser391ArgfsTer16
ENST00000643697.1:n.1472_1473insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA
ENST00000644874.2:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000496360.1:p.Ser391ArgfsTer16
ENST00000216361.8:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000216361.4:p.Ser391ArgfsTer16
ENST00000396618.7:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000379862.3:p.Ser391ArgfsTer16
ENST00000460581.6:c.834_835insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000451713.1:p.Ser279ArgfsTer16
ENST00000468826.2:c.821_822insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA
ENST00000475087.5:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	ENSP00000451528.1:p.Ser391ArgfsTer16
NM_001135058.1:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NP_001128530.1:p.Ser391ArgfsTer16
NM_004086.2:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NP_004077.1:p.Ser391ArgfsTer16
NR_038356.1:n.859_860insTACAGACGATACTCAGTTAGCAATCTGTTCTATGGAGTATATCTACTTTGCTCGCCCTGATTCT
XM_011536539.1:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	XP_011534841.1:p.Ser391ArgfsTer16
NM_001347720.1:c.1365_1366insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NP_001334649.1:p.Ser456ArgfsTer16
XM_017021071.1:c.1365_1366insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	XP_016876560.1:p.Ser456ArgfsTer16
XM_024449506.1:c.1227_1228insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	XP_024305274.1:p.Ser410ArgfsTer16
NM_004086.3:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA MANE Select	NP_004077.1:p.Ser391ArgfsTer16
NM_001135058.2:c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NP_001128530.1:p.Ser391ArgfsTer16
NM_001347720.2:c.1365_1366insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA	NP_001334649.1:p.Ser456ArgfsTer16