Canonical Allele Identifier: CA2674242408

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721836-C-CTCTTCCTGCTGATTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721837_74721852dup , CM000667.2:g.74721837_74721852dup	GRCh38
NC_000005.9:g.74017662_74017677dup , CM000667.1:g.74017662_74017677dup	GRCh37
NC_000005.8:g.74053418_74053433dup	NCBI36
NG_009770.1:g.41694_41709dup
NG_011531.1:g.50366_50381dup
NG_009770.2:g.86815_86830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-69_2212-54dup (GFM2) MANE Select	ENSP00000296805.3:n.2212-69_2212-54dup
ENST00000296805.7:c.2212-69_2212-54dup (GFM2)	ENSP00000296805.3:n.2212-69_2212-54dup
ENST00000345239.6:c.2071-69_2071-54dup (GFM2)	ENSP00000296804.3:n.2071-69_2071-54dup
ENST00000503312.5:c.608+401_608+416dup (HEXB)
ENST00000505859.1:c.255+401_255+416dup (HEXB)
ENST00000509430.5:c.2212-69_2212-54dup (GFM2)	ENSP00000427004.1:n.2212-69_2212-54dup
ENST00000513867.1:n.380+401_380+416dup (HEXB)
ENST00000515125.5:n.615-69_615-54dup (GFM2)
NM_001281302.1:c.2308-69_2308-54dup (GFM2)	NP_001268231.1:n.2308-69_2308-54dup
NM_032380.4:c.2212-69_2212-54dup (GFM2)	NP_115756.2:n.2212-69_2212-54dup
NM_170691.2:c.2071-69_2071-54dup (GFM2)	NP_733792.1:n.2071-69_2071-54dup
NR_104006.1:n.2531-69_2531-54dup (GFM2)
XM_006714721.2:c.2077-69_2077-54dup (GFM2)	XP_006714784.1:n.2077-69_2077-54dup
XM_011543690.1:c.2212-69_2212-54dup (GFM2)	XP_011541992.1:n.2212-69_2212-54dup
XM_017009986.1:c.2212-69_2212-54dup (GFM2)	XP_016865475.1:n.2212-69_2212-54dup
XR_002956185.1:n.3498-69_3498-54dup (GFM2)
NM_032380.5:c.2212-69_2212-54dup (GFM2) MANE Select	NP_115756.2:n.2212-69_2212-54dup
NM_001281302.2:c.2308-69_2308-54dup (GFM2)	NP_001268231.1:n.2308-69_2308-54dup
NM_170691.3:c.2071-69_2071-54dup (GFM2)	NP_733792.1:n.2071-69_2071-54dup
NR_104006.2:n.2277-69_2277-54dup (GFM2)