Canonical Allele Identifier: CA2674242345

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721779-TAACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721780_74721784del , CM000667.2:g.74721780_74721784del	GRCh38
NC_000005.9:g.74017605_74017609del , CM000667.1:g.74017605_74017609del	GRCh37
NC_000005.8:g.74053361_74053365del	NCBI36
NG_009770.1:g.41637_41641del
NG_011531.1:g.50434_50438del
NG_009770.2:g.86758_86762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-1_2215del (GFM2)
ENST00000296805.7:c.2212-1_2215del (GFM2)
ENST00000345239.6:c.2071-1_2074del (GFM2)
ENST00000503312.5:c.608+344_608+348del (HEXB)
ENST00000505859.1:c.255+344_255+348del (HEXB)
ENST00000509430.5:c.2212-1_2215del (GFM2)
ENST00000513867.1:n.380+344_380+348del (HEXB)
ENST00000515125.5:n.615-1_618del (GFM2)
NM_001281302.1:c.2308-1_2311del (GFM2)
NM_032380.4:c.2212-1_2215del (GFM2)
NM_170691.2:c.2071-1_2074del (GFM2)
NR_104006.1:n.2531-1_2534del (GFM2)
XM_006714721.2:c.2077-1_2080del (GFM2)
XM_011543690.1:c.2212-1_2215del (GFM2)
XM_017009986.1:c.2212-1_2215del (GFM2)
XR_002956185.1:n.3498-1_3501del (GFM2)
NM_032380.5:c.2212-1_2215del (GFM2)
NM_001281302.2:c.2308-1_2311del (GFM2)
NM_170691.3:c.2071-1_2074del (GFM2)
NR_104006.2:n.2277-1_2280del (GFM2)