Canonical Allele Identifier: CA379795081

Gene: USH1C

Linked Data

• dbSNP Id: rs1554962163
• gnomAD v4: 11-17527124-GCCCT-G
• MyVariant Identifiers: chr11:g.17548672_17548675del (hg19) ; chr11:g.17527126_17527129del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527136_17527139del , CM000673.2:g.17527136_17527139del	GRCh38
NC_000011.9:g.17548683_17548686del , CM000673.1:g.17548683_17548686del	GRCh37
NC_000011.8:g.17505259_17505262del	NCBI36
NG_011883.1:g.22289_22292del
NG_011883.2:g.22289_22292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.497-88_497-85del MANE Select	ENSP00000005226.7:n.497-88_497-85del
ENST00000318024.9:c.497-88_497-85del MANE Plus Clinical	ENSP00000317018.4:n.497-88_497-85del
ENST00000005226.11:c.497-88_497-85del	ENSP00000005226.7:n.497-88_497-85del
ENST00000318024.8:c.497-88_497-85del	ENSP00000317018.4:n.497-88_497-85del
ENST00000526181.1:c.530-88_530-85del	ENSP00000437128.1:n.530-88_530-85del
ENST00000526313.5:c.497-88_497-85del	ENSP00000432236.1:n.497-88_497-85del
ENST00000527020.5:c.497-88_497-85del	ENSP00000436934.1:n.497-88_497-85del
ENST00000527720.5:c.404-88_404-85del	ENSP00000432944.1:n.404-88_404-85del
NM_001297764.1:c.497-88_497-85del	NP_001284693.1:n.497-88_497-85del
NM_005709.3:c.497-88_497-85del	NP_005700.2:n.497-88_497-85del
NM_153676.3:c.497-88_497-85del	NP_710142.1:n.497-88_497-85del
NR_123738.1:n.606-88_606-85del
XM_011519831.1:c.497-88_497-85del	XP_011518133.1:n.497-88_497-85del
XM_011519832.1:c.497-88_497-85del	XP_011518134.1:n.497-88_497-85del
XM_011519833.1:c.497-88_497-85del	XP_011518135.1:n.497-88_497-85del
XM_011519834.1:c.497-88_497-85del	XP_011518136.1:n.497-88_497-85del
XR_930841.1:n.606-88_606-85del
XR_930842.1:n.606-88_606-85del
XM_011519832.3:c.497-88_497-85del	XP_011518134.1:n.497-88_497-85del
XM_011519834.2:c.497-88_497-85del	XP_011518136.1:n.497-88_497-85del
XM_017017072.1:c.497-88_497-85del	XP_016872561.1:n.497-88_497-85del
XM_017017073.1:c.497-88_497-85del	XP_016872562.1:n.497-88_497-85del
XM_017017074.1:c.497-88_497-85del	XP_016872563.1:n.497-88_497-85del
XM_017017075.1:c.497-88_497-85del	XP_016872564.1:n.497-88_497-85del
XR_001747717.2:n.606-88_606-85del
NM_153676.4:c.497-88_497-85del MANE Select	NP_710142.1:n.497-88_497-85del
NM_001297764.2:c.497-88_497-85del	NP_001284693.1:n.497-88_497-85del
NM_005709.4:c.497-88_497-85del MANE Plus Clinical	NP_005700.2:n.497-88_497-85del
NR_123738.2:n.606-88_606-85del