Canonical Allele Identifier: CA661187196
Gene: UROS HGNC NCBI

Linked Data

dbSNP Id: rs1340060040
gnomAD v3: 10-125823231-C-CTGCGCGCAGCTAGGCGCTCGCGCA
gnomAD v4: 10-125823231-C-CTGCGCGCAGCTAGGCGCTCGCGCA
MyVariant Identifiers: chr10:g.127511800_127511801insTGCGCGCAGCTAGGCGCTCGCGCA (hg19) chr10:g.125823231_125823232insTGCGCGCAGCTAGGCGCTCGCGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125823237_125823260dup , CM000672.2:g.125823237_125823260dup GRCh38
NC_000010.10:g.127511806_127511829dup , CM000672.1:g.127511806_127511829dup GRCh37
NC_000010.9:g.127501796_127501819dup NCBI36
NG_011557.1:g.5014_5037dup
NG_029095.1:g.4703_4726dup
NG_011557.2:g.5014_5037dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.-253_-230dup ENSP00000518871.1:n.-253_-230dup
NM_000375.2:c.-253_-230dup NP_000366.1:n.-253_-230dup
NM_001324036.1:c.-253_-230dup NP_001310965.1:n.-253_-230dup
NM_001324037.1:c.-253_-230dup NP_001310966.1:n.-253_-230dup
NM_001324038.1:c.-253_-230dup NP_001310967.1:n.-253_-230dup
NM_001324039.1:c.-253_-230dup NP_001310968.1:n.-253_-230dup
NR_136675.1:n.14_37dup
NR_136676.1:n.14_37dup
NR_136677.1:n.14_37dup
NR_136678.1:n.14_37dup
XM_024448155.1:c.-253_-230dup XP_024303923.1:n.-253_-230dup
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