Canonical Allele Identifier: CA529002108
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1298501272
gnomAD v2: 1-215848778-G-GCTTTTT
gnomAD v4: 1-215675436-G-GCTTTTT
MyVariant Identifiers: chr1:g.215848778_215848779insCTTTTT (hg19) chr1:g.215675436_215675437insCTTTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675438_215675439insTTTTCT , CM000663.2:g.215675438_215675439insTTTTCT GRCh38
NC_000001.10:g.215848780_215848781insTTTTCT , CM000663.1:g.215848780_215848781insTTTTCT GRCh37
NC_000001.9:g.213915403_213915404insTTTTCT NCBI36
NG_009497.1:g.752960_752961insAAAAAG
NG_009497.2:g.753012_753013insAAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12474_12475insAAAAAG MANE Select ENSP00000305941.3:p.Gln4158_Leu4159insLysLys
ENST00000674083.1:c.12474_12475insAAAAAG ENSP00000501296.1:p.Gln4158_Leu4159insLysLys
ENST00000307340.7:c.12474_12475insAAAAAG ENSP00000305941.3:p.Gln4158_Leu4159insLysLys
NM_206933.2:c.12474_12475insAAAAAG NP_996816.2:p.Gln4158_Leu4159insLysLys
NM_206933.3:c.12474_12475insAAAAAG NP_996816.2:p.Gln4158_Leu4159insLysLys
NM_206933.4:c.12474_12475insAAAAAG MANE Select NP_996816.3:p.Gln4158_Leu4159insLysLys
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