Canonical Allele Identifier: CA1163306436

Gene: MTF1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37812884_37812887delinsCAGG , CM000663.2:g.37812884_37812887delinsCAGG	GRCh38
NC_000001.10:g.38278556_38278559delinsCAGG , CM000663.1:g.38278556_38278559delinsCAGG	GRCh37
NC_000001.9:g.38051143_38051146delinsCAGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373036.5:c.*2249_*2252delinsCCTG MANE Select	ENSP00000362127.3:n.*2249_*2252delinsCCTG
ENST00000373036.4:c.*2249_*2252delinsCCTG	ENSP00000362127.3:n.*2249_*2252delinsCCTG
NM_005955.2:c.*2249_*2252delinsCCTG	NP_005946.2:n.*2249_*2252delinsCCTG
XM_011541491.1:c.*2249_*2252delinsCCTG	XP_011539793.1:n.*2249_*2252delinsCCTG
XM_011541492.1:c.*2249_*2252delinsCCTG	XP_011539794.1:n.*2249_*2252delinsCCTG
XM_011541494.1:c.*2249_*2252delinsCCTG	XP_011539796.1:n.*2249_*2252delinsCCTG
XM_011541491.2:c.*2249_*2252delinsCCTG	XP_011539793.1:n.*2249_*2252delinsCCTG
NM_005955.3:c.*2249_*2252delinsCCTG MANE Select	NP_005946.2:n.*2249_*2252delinsCCTG