Canonical Allele Identifier: CA597672753

Gene: USH1C

Linked Data

• dbSNP Id: rs1414931432
• gnomAD v2: 11-17516172-G-GACTTTT
• gnomAD v3: 11-17494625-G-GACTTTT
• gnomAD v4: 11-17494625-G-GACTTTT
• MyVariant Identifiers: chr11:g.17516172_17516173insACTTTT (hg19) ; chr11:g.17494625_17494626insACTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494625_17494626insACTTTT , CM000673.2:g.17494625_17494626insACTTTT	GRCh38
NC_000011.9:g.17516172_17516173insACTTTT , CM000673.1:g.17516172_17516173insACTTTT	GRCh37
NC_000011.8:g.17472748_17472749insACTTTT	NCBI36
NG_011883.1:g.54791_54792insAAAAGT
NG_011883.2:g.54791_54792insAAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2656-250_2656-249insAAAAGT MANE Select	ENSP00000005226.7:n.2656-250_2656-249insAAAAGT
ENST00000318024.9:c.1647-250_1647-249insAAAAGT MANE Plus Clinical	ENSP00000317018.4:n.1647-250_1647-249insAAAAGT
ENST00000005226.11:c.2656-250_2656-249insAAAAGT	ENSP00000005226.7:n.2656-250_2656-249insAAAAGT
ENST00000318024.8:c.1647-250_1647-249insAAAAGT	ENSP00000317018.4:n.1647-250_1647-249insAAAAGT
ENST00000526313.5:c.*361-250_*361-249insAAAAGT	ENSP00000432236.1:n.*361-250_*361-249insAAAAGT
ENST00000527020.5:c.1590-250_1590-249insAAAAGT	ENSP00000436934.1:n.1590-250_1590-249insAAAAGT
ENST00000527551.1:n.157-250_157-249insAAAAGT
ENST00000527720.5:c.1554-250_1554-249insAAAAGT	ENSP00000432944.1:n.1554-250_1554-249insAAAAGT
ENST00000529563.5:n.531-250_531-249insAAAAGT
ENST00000624811.1:n.468_469insAAAAGT
NM_001297764.1:c.1590-250_1590-249insAAAAGT	NP_001284693.1:n.1590-250_1590-249insAAAAGT
NM_005709.3:c.1647-250_1647-249insAAAAGT	NP_005700.2:n.1647-250_1647-249insAAAAGT
NM_153676.3:c.2656-250_2656-249insAAAAGT	NP_710142.1:n.2656-250_2656-249insAAAAGT
NR_123738.1:n.1682-250_1682-249insAAAAGT
XM_011519831.1:c.2571-250_2571-249insAAAAGT	XP_011518133.1:n.2571-250_2571-249insAAAAGT
XM_011519832.1:c.1800-250_1800-249insAAAAGT	XP_011518134.1:n.1800-250_1800-249insAAAAGT
XM_011519832.3:c.1800-250_1800-249insAAAAGT	XP_011518134.1:n.1800-250_1800-249insAAAAGT
XM_017017075.1:c.*727_*728insAAAAGT	XP_016872564.1:n.*727_*728insAAAAGT
XR_001747717.2:n.1806-250_1806-249insAAAAGT
NM_153676.4:c.2656-250_2656-249insAAAAGT MANE Select	NP_710142.1:n.2656-250_2656-249insAAAAGT
NM_001297764.2:c.1590-250_1590-249insAAAAGT	NP_001284693.1:n.1590-250_1590-249insAAAAGT
NM_005709.4:c.1647-250_1647-249insAAAAGT MANE Plus Clinical	NP_005700.2:n.1647-250_1647-249insAAAAGT
NR_123738.2:n.1682-250_1682-249insAAAAGT