Canonical Allele Identifier: CA2674242352

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721784-C-CTAATCAAAATAATTTAAGTCATTTATATTATCAAATTTAAGCCTCAAGTTTCTCTTCCTGCTGATTATCTTTTGACTATTAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721785_74721870dup , CM000667.2:g.74721785_74721870dup	GRCh38
NC_000005.9:g.74017610_74017695dup , CM000667.1:g.74017610_74017695dup	GRCh37
NC_000005.8:g.74053366_74053451dup	NCBI36
NG_009770.1:g.41642_41727dup
NG_011531.1:g.50348_50433dup
NG_009770.2:g.86763_86848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-87_2212-2dup (GFM2) MANE Select	ENSP00000296805.3:n.2212-87_2212-2dup
ENST00000296805.7:c.2212-87_2212-2dup (GFM2)	ENSP00000296805.3:n.2212-87_2212-2dup
ENST00000345239.6:c.2071-87_2071-2dup (GFM2)	ENSP00000296804.3:n.2071-87_2071-2dup
ENST00000503312.5:c.608+349_608+434dup (HEXB)
ENST00000505859.1:c.255+349_256-429dup (HEXB)
ENST00000509430.5:c.2212-87_2212-2dup (GFM2)	ENSP00000427004.1:n.2212-87_2212-2dup
ENST00000513867.1:n.380+349_381-429dup (HEXB)
ENST00000515125.5:n.615-87_615-2dup (GFM2)
NM_001281302.1:c.2308-87_2308-2dup (GFM2)	NP_001268231.1:n.2308-87_2308-2dup
NM_032380.4:c.2212-87_2212-2dup (GFM2)	NP_115756.2:n.2212-87_2212-2dup
NM_170691.2:c.2071-87_2071-2dup (GFM2)	NP_733792.1:n.2071-87_2071-2dup
NR_104006.1:n.2531-87_2531-2dup (GFM2)
XM_006714721.2:c.2077-87_2077-2dup (GFM2)	XP_006714784.1:n.2077-87_2077-2dup
XM_011543690.1:c.2212-87_2212-2dup (GFM2)	XP_011541992.1:n.2212-87_2212-2dup
XM_017009986.1:c.2212-87_2212-2dup (GFM2)	XP_016865475.1:n.2212-87_2212-2dup
XR_002956185.1:n.3498-87_3498-2dup (GFM2)
NM_032380.5:c.2212-87_2212-2dup (GFM2) MANE Select	NP_115756.2:n.2212-87_2212-2dup
NM_001281302.2:c.2308-87_2308-2dup (GFM2)	NP_001268231.1:n.2308-87_2308-2dup
NM_170691.3:c.2071-87_2071-2dup (GFM2)	NP_733792.1:n.2071-87_2071-2dup
NR_104006.2:n.2277-87_2277-2dup (GFM2)