Canonical Allele Identifier: CA1955173438

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501481_17501484delinsCCTT , CM000673.2:g.17501481_17501484delinsCCTT	GRCh38
NC_000011.9:g.17523028_17523031delinsCCTT , CM000673.1:g.17523028_17523031delinsCCTT	GRCh37
NC_000011.8:g.17479604_17479607delinsCCTT	NCBI36
NG_011883.1:g.47933_47936delinsAAGG
NG_011883.2:g.47933_47936delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2278_2280+1delinsAAGG
ENST00000318024.9:c.1378_1380+1delinsAAGG
ENST00000005226.11:c.2278_2280+1delinsAAGG
ENST00000318024.8:c.1378_1380+1delinsAAGG
ENST00000526313.5:c.*92_*94+1delinsAAGG
ENST00000527020.5:c.1321_1323+1delinsAAGG
ENST00000527720.5:c.1285_1287+1delinsAAGG
ENST00000529563.5:n.262_264+1delinsAAGG
ENST00000534556.1:n.163_165+1delinsAAGG
NM_001297764.1:c.1321_1323+1delinsAAGG
NM_005709.3:c.1378_1380+1delinsAAGG
NM_153676.3:c.2278_2280+1delinsAAGG
NR_123738.1:n.1413_1415+1delinsAAGG
XM_011519831.1:c.2302_2304+1delinsAAGG
XM_011519832.1:c.1531_1533+1delinsAAGG
XM_011519833.1:c.1428_1430+1delinsAAGG
XR_930841.1:n.1749_1751+1delinsAAGG
XR_930842.1:n.1690_1692+1delinsAAGG
XM_011519832.3:c.1531_1533+1delinsAAGG
XM_017017075.1:c.2278_2280+1delinsAAGG
XR_001747717.2:n.1537_1539+1delinsAAGG
NM_153676.4:c.2278_2280+1delinsAAGG
NM_001297764.2:c.1321_1323+1delinsAAGG
NM_005709.4:c.1378_1380+1delinsAAGG
NR_123738.2:n.1413_1415+1delinsAAGG