Canonical Allele Identifier: CA2126960712

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889651_30889665delinsCCTCTGGATGACCTG , CM000676.2:g.30889651_30889665delinsCCTCTGGATGACCTG	GRCh38
NC_000014.8:g.31358857_31358871delinsCCTCTGGATGACCTG , CM000676.1:g.31358857_31358871delinsCCTCTGGATGACCTG	GRCh37
NC_000014.7:g.30428608_30428622delinsCCTCTGGATGACCTG	NCBI36
NG_008211.2:g.20117_20131delinsCCTCTGGATGACCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1708_1722delinsCCTCTGGATGACCTG	ENSP00000216361.5:p.Pro570=
ENST00000396618.9:c.1513_1527delinsCCTCTGGATGACCTG MANE Select	ENSP00000379862.3:p.Pro505=
ENST00000555117.2:c.1534+3339_1534+3353delinsCCTCTGGATGACCTG	ENSP00000493569.1:n.1534+3339_1534+3353delinsCCTCTGGATGACCTG
ENST00000643575.1:c.1513_1527delinsCCTCTGGATGACCTG	ENSP00000494838.1:p.Pro505=
ENST00000643697.1:n.1815_1829delinsCCTCTGGATGACCTG
ENST00000644874.2:c.1513_1527delinsCCTCTGGATGACCTG	ENSP00000496360.1:p.Pro505=
ENST00000216361.8:c.1513_1527delinsCCTCTGGATGACCTG	ENSP00000216361.4:p.Pro505=
ENST00000396618.7:c.1513_1527delinsCCTCTGGATGACCTG	ENSP00000379862.3:p.Pro505=
ENST00000460581.6:c.1177_1191delinsCCTCTGGATGACCTG	ENSP00000451713.1:p.Pro393=
ENST00000468826.2:c.1164_1178delinsCCTCTGGATGACCTG
ENST00000475087.5:c.1477+3339_1477+3353delinsCCTCTGGATGACCTG	ENSP00000451528.1:n.1477+3339_1477+3353delinsCCTCTGGATGACCTG
NM_001135058.1:c.1513_1527delinsCCTCTGGATGACCTG	NP_001128530.1:p.Pro505=
NM_004086.2:c.1513_1527delinsCCTCTGGATGACCTG	NP_004077.1:p.Pro505=
NR_038356.1:n.144_158delinsCAGGTCATCCAGAGG
XM_011536539.1:c.1513_1527delinsCCTCTGGATGACCTG	XP_011534841.1:p.Pro505=
NM_001347720.1:c.1708_1722delinsCCTCTGGATGACCTG	NP_001334649.1:p.Pro570=
XM_017021071.1:c.1708_1722delinsCCTCTGGATGACCTG	XP_016876560.1:p.Pro570=
XM_024449506.1:c.1570_1584delinsCCTCTGGATGACCTG	XP_024305274.1:p.Pro524=
NM_004086.3:c.1513_1527delinsCCTCTGGATGACCTG MANE Select	NP_004077.1:p.Pro505=
NM_001135058.2:c.1513_1527delinsCCTCTGGATGACCTG	NP_001128530.1:p.Pro505=
NM_001347720.2:c.1708_1722delinsCCTCTGGATGACCTG	NP_001334649.1:p.Pro570=