Canonical Allele Identifier: CA813894778

Gene: GFM2

Linked Data

• dbSNP Id: rs1217669466
• gnomAD v3: 5-74725543-CAAGAT-C
• gnomAD v4: 5-74725543-CAAGAT-C
• MyVariant Identifiers: chr5:g.74021369_74021373del (hg19) ; chr5:g.74725544_74725548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725547_74725551del , CM000667.2:g.74725547_74725551del	GRCh38
NC_000005.9:g.74021372_74021376del , CM000667.1:g.74021372_74021376del	GRCh37
NC_000005.8:g.74057128_74057132del	NCBI36
NG_011531.1:g.46670_46674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2028+92_2028+96del MANE Select	ENSP00000296805.3:n.2028+92_2028+96del
ENST00000296805.7:c.2028+92_2028+96del	ENSP00000296805.3:n.2028+92_2028+96del
ENST00000345239.6:c.1887+92_1887+96del	ENSP00000296804.3:n.1887+92_1887+96del
ENST00000509430.5:c.2028+92_2028+96del	ENSP00000427004.1:n.2028+92_2028+96del
ENST00000515125.5:n.431+393_431+397del
NM_001281302.1:c.2124+92_2124+96del	NP_001268231.1:n.2124+92_2124+96del
NM_032380.4:c.2028+92_2028+96del	NP_115756.2:n.2028+92_2028+96del
NM_170691.2:c.1887+92_1887+96del	NP_733792.1:n.1887+92_1887+96del
NR_104006.1:n.2347+92_2347+96del
XM_006714721.2:c.1893+92_1893+96del	XP_006714784.1:n.1893+92_1893+96del
XM_011543690.1:c.2028+92_2028+96del	XP_011541992.1:n.2028+92_2028+96del
XM_017009986.1:c.2028+92_2028+96del	XP_016865475.1:n.2028+92_2028+96del
XR_002956185.1:n.3314+92_3314+96del
NM_032380.5:c.2028+92_2028+96del MANE Select	NP_115756.2:n.2028+92_2028+96del
NM_001281302.2:c.2124+92_2124+96del	NP_001268231.1:n.2124+92_2124+96del
NM_170691.3:c.1887+92_1887+96del	NP_733792.1:n.1887+92_1887+96del
NR_104006.2:n.2093+92_2093+96del