Canonical Allele Identifier: CA2651880900
Gene: FERMT1 HGNC NCBI

Linked Data

gnomAD v4: 20-6096908-G-GCTGTCCGCTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6096910_6096921dup , CM000682.2:g.6096910_6096921dup GRCh38
NC_000020.10:g.6077557_6077568dup , CM000682.1:g.6077557_6077568dup GRCh37
NC_000020.9:g.6025557_6025568dup NCBI36
NG_016213.1:g.31625_31636dup

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.1071_1082dup ENSP00000514127.1:p.Asp360_Ser361insArgLysAlaAsp
ENST00000699096.1:n.1533_1544dup
ENST00000699097.1:n.241_252dup
ENST00000217289.9:c.1071_1082dup MANE Select ENSP00000217289.4:p.Asp360_Ser361insArgLysAlaAsp
ENST00000217289.8:c.1071_1082dup ENSP00000217289.4:p.Asp360_Ser361insArgLysAlaAsp
ENST00000536936.1:c.300_311dup ENSP00000441063.1:p.Asp103_Ser104insArgLysAlaAsp
NM_017671.4:c.1071_1082dup NP_060141.3:p.Asp360_Ser361insArgLysAlaAsp
XM_024451935.1:c.1071_1082dup XP_024307703.1:p.Asp360_Ser361insArgLysAlaAsp
NM_017671.5:c.1071_1082dup MANE Select NP_060141.3:p.Asp360_Ser361insArgLysAlaAsp
Search 100 bp 5'
Search 100 bp 3'