Canonical Allele Identifier: CA2674243613

Gene: GFM2

Linked Data

• gnomAD v4: 5-74725595-C-CTCTATACT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725595_74725596insTCTATACT , CM000667.2:g.74725595_74725596insTCTATACT	GRCh38
NC_000005.9:g.74021420_74021421insTCTATACT , CM000667.1:g.74021420_74021421insTCTATACT	GRCh37
NC_000005.8:g.74057176_74057177insTCTATACT	NCBI36
NG_011531.1:g.46622_46623insAGTATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2028+44_2028+45insAGTATAGA MANE Select	ENSP00000296805.3:n.2028+44_2028+45insAGTATAGA
ENST00000296805.7:c.2028+44_2028+45insAGTATAGA	ENSP00000296805.3:n.2028+44_2028+45insAGTATAGA
ENST00000345239.6:c.1887+44_1887+45insAGTATAGA	ENSP00000296804.3:n.1887+44_1887+45insAGTATAGA
ENST00000509430.5:c.2028+44_2028+45insAGTATAGA	ENSP00000427004.1:n.2028+44_2028+45insAGTATAGA
ENST00000515125.5:n.431+345_431+346insAGTATAGA
NM_001281302.1:c.2124+44_2124+45insAGTATAGA	NP_001268231.1:n.2124+44_2124+45insAGTATAGA
NM_032380.4:c.2028+44_2028+45insAGTATAGA	NP_115756.2:n.2028+44_2028+45insAGTATAGA
NM_170691.2:c.1887+44_1887+45insAGTATAGA	NP_733792.1:n.1887+44_1887+45insAGTATAGA
NR_104006.1:n.2347+44_2347+45insAGTATAGA
XM_006714721.2:c.1893+44_1893+45insAGTATAGA	XP_006714784.1:n.1893+44_1893+45insAGTATAGA
XM_011543690.1:c.2028+44_2028+45insAGTATAGA	XP_011541992.1:n.2028+44_2028+45insAGTATAGA
XM_017009986.1:c.2028+44_2028+45insAGTATAGA	XP_016865475.1:n.2028+44_2028+45insAGTATAGA
XR_002956185.1:n.3314+44_3314+45insAGTATAGA
NM_032380.5:c.2028+44_2028+45insAGTATAGA MANE Select	NP_115756.2:n.2028+44_2028+45insAGTATAGA
NM_001281302.2:c.2124+44_2124+45insAGTATAGA	NP_001268231.1:n.2124+44_2124+45insAGTATAGA
NM_170691.3:c.1887+44_1887+45insAGTATAGA	NP_733792.1:n.1887+44_1887+45insAGTATAGA
NR_104006.2:n.2093+44_2093+45insAGTATAGA