Canonical Allele Identifier: CA522032239
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1227072201
gnomAD v2: 1-38278556-CAGG-C
gnomAD v3: 1-37812884-CAGG-C
gnomAD v4: 1-37812884-CAGG-C
MyVariant Identifiers: chr1:g.38278557_38278559del (hg19) chr1:g.37812885_37812887del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37812889_37812891del , CM000663.2:g.37812889_37812891del GRCh38
NC_000001.10:g.38278561_38278563del , CM000663.1:g.38278561_38278563del GRCh37
NC_000001.9:g.38051148_38051150del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2249_*2251del MANE Select ENSP00000362127.3:n.*2249_*2251del
ENST00000373036.4:c.*2249_*2251del ENSP00000362127.3:n.*2249_*2251del
NM_005955.2:c.*2249_*2251del NP_005946.2:n.*2249_*2251del
XM_011541491.1:c.*2249_*2251del XP_011539793.1:n.*2249_*2251del
XM_011541492.1:c.*2249_*2251del XP_011539794.1:n.*2249_*2251del
XM_011541494.1:c.*2249_*2251del XP_011539796.1:n.*2249_*2251del
XM_011541491.2:c.*2249_*2251del XP_011539793.1:n.*2249_*2251del
NM_005955.3:c.*2249_*2251del MANE Select NP_005946.2:n.*2249_*2251del
Search 100 bp 5'
Search 100 bp 3'