Canonical Allele Identifier: CA2624446879
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30879091_30879092dup , CM000676.2:g.30879091_30879092dup GRCh38
NC_000014.8:g.31348297_31348298dup , CM000676.1:g.31348297_31348298dup GRCh37
NC_000014.7:g.30418048_30418049dup NCBI36
NG_008211.2:g.9557_9558dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.568+147_568+148dup ENSP00000216361.5:n.568+147_568+148dup
ENST00000396618.9:c.373+147_373+148dup MANE Select ENSP00000379862.3:n.373+147_373+148dup
ENST00000555117.2:c.373+147_373+148dup ENSP00000493569.1:n.373+147_373+148dup
ENST00000643575.1:c.373+147_373+148dup ENSP00000494838.1:n.373+147_373+148dup
ENST00000643697.1:n.618+147_618+148dup
ENST00000644874.2:c.373+147_373+148dup ENSP00000496360.1:n.373+147_373+148dup
ENST00000216361.8:c.373+147_373+148dup ENSP00000216361.4:n.373+147_373+148dup
ENST00000396618.7:c.373+147_373+148dup ENSP00000379862.3:n.373+147_373+148dup
ENST00000460581.6:c.37+147_37+148dup ENSP00000451713.1:n.37+147_37+148dup
ENST00000475087.5:c.373+147_373+148dup ENSP00000451528.1:n.373+147_373+148dup
ENST00000553772.5:c.240-1361_240-1360dup ENSP00000452343.1:n.240-1361_240-1360dup
ENST00000553833.5:n.527+147_527+148dup
ENST00000555881.5:c.83-1361_83-1360dup ENSP00000452569.1:n.83-1361_83-1360dup
ENST00000556908.5:c.325+147_325+148dup ENSP00000452541.1:n.325+147_325+148dup
ENST00000557065.1:c.156-332_156-331dup ENSP00000451629.1:n.156-332_156-331dup
NM_001135058.1:c.373+147_373+148dup NP_001128530.1:n.373+147_373+148dup
NM_004086.2:c.373+147_373+148dup NP_004077.1:n.373+147_373+148dup
NR_038356.1:n.1618-2540_1618-2539dup
XM_011536539.1:c.373+147_373+148dup XP_011534841.1:n.373+147_373+148dup
NM_001347720.1:c.568+147_568+148dup NP_001334649.1:n.568+147_568+148dup
XM_017021071.1:c.568+147_568+148dup XP_016876560.1:n.568+147_568+148dup
XM_024449506.1:c.373+147_373+148dup XP_024305274.1:n.373+147_373+148dup
NM_004086.3:c.373+147_373+148dup MANE Select NP_004077.1:n.373+147_373+148dup
NM_001135058.2:c.373+147_373+148dup NP_001128530.1:n.373+147_373+148dup
NM_001347720.2:c.568+147_568+148dup NP_001334649.1:n.568+147_568+148dup