Canonical Allele Identifier: CA2612670480

Gene: USH1C

Linked Data

• gnomAD v4: 11-17494590-TGGGATGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494595_17494601del , CM000673.2:g.17494595_17494601del	GRCh38
NC_000011.9:g.17516142_17516148del , CM000673.1:g.17516142_17516148del	GRCh37
NC_000011.8:g.17472718_17472724del	NCBI36
NG_011883.1:g.54820_54826del
NG_011883.2:g.54820_54826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2656-221_2656-215del MANE Select	ENSP00000005226.7:n.2656-221_2656-215del
ENST00000318024.9:c.1647-221_1647-215del MANE Plus Clinical	ENSP00000317018.4:n.1647-221_1647-215del
ENST00000005226.11:c.2656-221_2656-215del	ENSP00000005226.7:n.2656-221_2656-215del
ENST00000318024.8:c.1647-221_1647-215del	ENSP00000317018.4:n.1647-221_1647-215del
ENST00000526313.5:c.*361-221_*361-215del	ENSP00000432236.1:n.*361-221_*361-215del
ENST00000527020.5:c.1590-221_1590-215del	ENSP00000436934.1:n.1590-221_1590-215del
ENST00000527551.1:n.157-221_157-215del
ENST00000527720.5:c.1554-221_1554-215del	ENSP00000432944.1:n.1554-221_1554-215del
ENST00000529563.5:n.531-221_531-215del
ENST00000624811.1:n.497_503del
NM_001297764.1:c.1590-221_1590-215del	NP_001284693.1:n.1590-221_1590-215del
NM_005709.3:c.1647-221_1647-215del	NP_005700.2:n.1647-221_1647-215del
NM_153676.3:c.2656-221_2656-215del	NP_710142.1:n.2656-221_2656-215del
NR_123738.1:n.1682-221_1682-215del
XM_011519831.1:c.2571-221_2571-215del	XP_011518133.1:n.2571-221_2571-215del
XM_011519832.1:c.1800-221_1800-215del	XP_011518134.1:n.1800-221_1800-215del
XM_011519832.3:c.1800-221_1800-215del	XP_011518134.1:n.1800-221_1800-215del
XM_017017075.1:c.*756_*762del	XP_016872564.1:n.*756_*762del
XR_001747717.2:n.1806-221_1806-215del
NM_153676.4:c.2656-221_2656-215del MANE Select	NP_710142.1:n.2656-221_2656-215del
NM_001297764.2:c.1590-221_1590-215del	NP_001284693.1:n.1590-221_1590-215del
NM_005709.4:c.1647-221_1647-215del MANE Plus Clinical	NP_005700.2:n.1647-221_1647-215del
NR_123738.2:n.1682-221_1682-215del