Canonical Allele Identifier: CA735499955
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1449695763
gnomAD v3: 1-37813127-AAAATTAGCCAGGCGTGGT-A
gnomAD v4: 1-37813127-AAAATTAGCCAGGCGTGGT-A
MyVariant Identifiers: chr1:g.38278800_38278817del (hg19) chr1:g.37813128_37813145del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813128_37813145del , CM000663.2:g.37813128_37813145del GRCh38
NC_000001.10:g.38278800_38278817del , CM000663.1:g.38278800_38278817del GRCh37
NC_000001.9:g.38051387_38051404del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*1991_*2008del MANE Select ENSP00000362127.3:n.*1991_*2008del
ENST00000373036.4:c.*1991_*2008del ENSP00000362127.3:n.*1991_*2008del
NM_005955.2:c.*1991_*2008del NP_005946.2:n.*1991_*2008del
XM_011541491.1:c.*1991_*2008del XP_011539793.1:n.*1991_*2008del
XM_011541492.1:c.*1991_*2008del XP_011539794.1:n.*1991_*2008del
XM_011541494.1:c.*1991_*2008del XP_011539796.1:n.*1991_*2008del
XM_011541491.2:c.*1991_*2008del XP_011539793.1:n.*1991_*2008del
NM_005955.3:c.*1991_*2008del MANE Select NP_005946.2:n.*1991_*2008del
Search 100 bp 5'
Search 100 bp 3'