Canonical Allele Identifier: CA560368310

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1341871323
• gnomAD v2: 5-74017627-GTCATTTATATTATCAAATTTAAGCC-G
• gnomAD v4: 5-74721802-GTCATTTATATTATCAAATTTAAGCC-G
• MyVariant Identifiers: chr5:g.74017628_74017652del (hg19) ; chr5:g.74721803_74721827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721806_74721830del , CM000667.2:g.74721806_74721830del	GRCh38
NC_000005.9:g.74017631_74017655del , CM000667.1:g.74017631_74017655del	GRCh37
NC_000005.8:g.74053387_74053411del	NCBI36
NG_009770.1:g.41663_41687del
NG_011531.1:g.50391_50415del
NG_009770.2:g.86784_86808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-44_2212-20del (GFM2) MANE Select	ENSP00000296805.3:n.2212-44_2212-20del
ENST00000296805.7:c.2212-44_2212-20del (GFM2)	ENSP00000296805.3:n.2212-44_2212-20del
ENST00000345239.6:c.2071-44_2071-20del (GFM2)	ENSP00000296804.3:n.2071-44_2071-20del
ENST00000503312.5:c.608+370_608+394del (HEXB)
ENST00000505859.1:c.255+370_255+394del (HEXB)
ENST00000509430.5:c.2212-44_2212-20del (GFM2)	ENSP00000427004.1:n.2212-44_2212-20del
ENST00000513867.1:n.380+370_380+394del (HEXB)
ENST00000515125.5:n.615-44_615-20del (GFM2)
NM_001281302.1:c.2308-44_2308-20del (GFM2)	NP_001268231.1:n.2308-44_2308-20del
NM_032380.4:c.2212-44_2212-20del (GFM2)	NP_115756.2:n.2212-44_2212-20del
NM_170691.2:c.2071-44_2071-20del (GFM2)	NP_733792.1:n.2071-44_2071-20del
NR_104006.1:n.2531-44_2531-20del (GFM2)
XM_006714721.2:c.2077-44_2077-20del (GFM2)	XP_006714784.1:n.2077-44_2077-20del
XM_011543690.1:c.2212-44_2212-20del (GFM2)	XP_011541992.1:n.2212-44_2212-20del
XM_017009986.1:c.2212-44_2212-20del (GFM2)	XP_016865475.1:n.2212-44_2212-20del
XR_002956185.1:n.3498-44_3498-20del (GFM2)
NM_032380.5:c.2212-44_2212-20del (GFM2) MANE Select	NP_115756.2:n.2212-44_2212-20del
NM_001281302.2:c.2308-44_2308-20del (GFM2)	NP_001268231.1:n.2308-44_2308-20del
NM_170691.3:c.2071-44_2071-20del (GFM2)	NP_733792.1:n.2071-44_2071-20del
NR_104006.2:n.2277-44_2277-20del (GFM2)