Canonical Allele Identifier: CA590568284
Gene: LMX1B HGNC NCBI

Linked Data

dbSNP Id: rs1409872045
gnomAD v2: 9-129377643-T-TTCGCCCTGTGCGCTACAGGCTC
gnomAD v3: 9-126615364-T-TTCGCCCTGTGCGCTACAGGCTC
gnomAD v4: 9-126615364-T-TTCGCCCTGTGCGCTACAGGCTC
MyVariant Identifiers: chr9:g.129377643_129377644insTCGCCCTGTGCGCTACAGGCTC (hg19) chr9:g.126615364_126615365insTCGCCCTGTGCGCTACAGGCTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.126615365_126615386dup , CM000671.2:g.126615365_126615386dup GRCh38
NC_000009.11:g.129377644_129377665dup , CM000671.1:g.129377644_129377665dup GRCh37
NC_000009.10:g.128417465_128417486dup NCBI36
NG_017039.1:g.5923_5944dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355497.10:c.140-18_143dup
ENST00000373474.9:c.140-18_143dup
ENST00000526117.6:c.140-18_143dup
ENST00000355497.9:c.140-18_143dup
ENST00000373474.8:c.140-18_143dup
ENST00000526117.5:c.140-18_143dup
ENST00000561065.1:c.71-18_74dup
NM_001174146.1:c.140-18_143dup
NM_001174147.1:c.140-18_143dup
NM_002316.3:c.140-18_143dup
NM_001174146.2:c.140-18_143dup
NM_001174147.2:c.140-18_143dup
NM_002316.4:c.140-18_143dup
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