Canonical Allele Identifier: CA548915970
Community Standard Title: NM_004113.6(FGF12):c.-131+19_-131+21dup
Gene: FGF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.192727479_192727481dup , CM000665.2:g.192727479_192727481dup GRCh38
NC_000003.11:g.192445268_192445270dup , CM000665.1:g.192445268_192445270dup GRCh37
NC_000003.10:g.193927962_193927964dup NCBI36
NG_051966.1:g.5135_5137dup

Transcript Alleles

HGVS Amino-acid Change
NM_004113.6:c.-131+19_-131+21dup MANE Select NP_004104.3:n.-131+19_-131+21dup
ENST00000445105.7:c.-131+19_-131+21dup MANE Select ENSP00000393686.1:n.-131+19_-131+21dup
NM_001377292.1:c.-131+19_-131+21dup NP_001364221.1:n.-131+19_-131+21dup
NM_001377293.1:c.-60+19_-60+21dup NP_001364222.1:n.-60+19_-60+21dup
NM_004113.5:c.-131+19_-131+21dup NP_004104.3:n.-131+19_-131+21dup
ENST00000418610.1:c.-272_-270dup ENSP00000395517.1:n.-272_-270dup
ENST00000430714.5:c.-131+19_-131+21dup ENSP00000410125.1:n.-131+19_-131+21dup
ENST00000445105.6:c.-131+19_-131+21dup ENSP00000393686.1:n.-131+19_-131+21dup
ENST00000448795.5:c.-60+19_-60+21dup ENSP00000412904.1:n.-60+19_-60+21dup
ENST00000450716.5:c.-130-142_-130-140dup ENSP00000397635.1:n.-130-142_-130-140dup
ENST00000466144.5:n.104+19_104+21dup
ENST00000491636.1:n.104+19_104+21dup
ENST00000682572.1:n.58+19_58+21dup
ENST00000682819.1:n.89+19_89+21dup
ENST00000682819.2:n.123+19_123+21dup
ENST00000683451.1:c.-161+19_-161+21dup ENSP00000508366.1:n.-161+19_-161+21dup
ENST00000683451.2:c.-161+19_-161+21dup ENSP00000508366.1:n.-161+19_-161+21dup
ENST00000683935.1:c.-127+19_-127+21dup ENSP00000507098.1:n.-127+19_-127+21dup
ENST00000684282.1:c.-1015+19_-1015+21dup ENSP00000507149.1:n.-1015+19_-1015+21dup
ENST00000684728.1:c.-301+19_-301+21dup ENSP00000506839.1:n.-301+19_-301+21dup