Canonical Allele Identifier: CA3306316

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs756966393
• ExAC: 5:74017605 A / AACCCTAATCAAAAT
• gnomAD v4: 5-74721780-A-AACCCTAATCAAAAT
• MyVariant Identifiers: chr5:g.74017605_74017606insACCCTAATCAAAAT (hg19) ; chr5:g.74721780_74721781insACCCTAATCAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721782_74721795dup , CM000667.2:g.74721782_74721795dup	GRCh38
NC_000005.9:g.74017607_74017620dup , CM000667.1:g.74017607_74017620dup	GRCh37
NC_000005.8:g.74053363_74053376dup	NCBI36
NG_009770.1:g.41639_41652dup
NG_011531.1:g.50424_50437dup
NG_009770.2:g.86760_86773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-11_2214dup (GFM2)
ENST00000296805.7:c.2212-11_2214dup (GFM2)
ENST00000345239.6:c.2071-11_2073dup (GFM2)
ENST00000503312.5:c.608+346_608+359dup (HEXB)
ENST00000505859.1:c.255+346_255+359dup (HEXB)
ENST00000509430.5:c.2212-11_2214dup (GFM2)
ENST00000513867.1:n.380+346_380+359dup (HEXB)
ENST00000515125.5:n.615-11_617dup (GFM2)
NM_001281302.1:c.2308-11_2310dup (GFM2)
NM_032380.4:c.2212-11_2214dup (GFM2)
NM_170691.2:c.2071-11_2073dup (GFM2)
NR_104006.1:n.2531-11_2533dup (GFM2)
XM_006714721.2:c.2077-11_2079dup (GFM2)
XM_011543690.1:c.2212-11_2214dup (GFM2)
XM_017009986.1:c.2212-11_2214dup (GFM2)
XR_002956185.1:n.3498-11_3500dup (GFM2)
NM_032380.5:c.2212-11_2214dup (GFM2)
NM_001281302.2:c.2308-11_2310dup (GFM2)
NM_170691.3:c.2071-11_2073dup (GFM2)
NR_104006.2:n.2277-11_2279dup (GFM2)