Canonical Allele Identifier: CA1000681028

Gene: MTF1

Linked Data

• dbSNP Id: rs1640760351
• gnomAD v3: 1-37813033-CACT-C
• gnomAD v4: 1-37813033-CACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37813034_37813036del , CM000663.2:g.37813034_37813036del	GRCh38
NC_000001.10:g.38278706_38278708del , CM000663.1:g.38278706_38278708del	GRCh37
NC_000001.9:g.38051293_38051295del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373036.5:c.*2100_*2102del MANE Select	ENSP00000362127.3:n.*2100_*2102del
ENST00000373036.4:c.*2100_*2102del	ENSP00000362127.3:n.*2100_*2102del
NM_005955.2:c.*2100_*2102del	NP_005946.2:n.*2100_*2102del
XM_011541491.1:c.*2100_*2102del	XP_011539793.1:n.*2100_*2102del
XM_011541492.1:c.*2100_*2102del	XP_011539794.1:n.*2100_*2102del
XM_011541494.1:c.*2100_*2102del	XP_011539796.1:n.*2100_*2102del
XM_011541491.2:c.*2100_*2102del	XP_011539793.1:n.*2100_*2102del
NM_005955.3:c.*2100_*2102del MANE Select	NP_005946.2:n.*2100_*2102del