Canonical Allele Identifier: CA560368233

Gene: GFM2 HEXB

Linked Data

• gnomAD v2: 5-74017464-CCAAAAACTAAAACATTTAGGT-C
• gnomAD v4: 5-74721639-CCAAAAACTAAAACATTTAGGT-C
• MyVariant Identifiers: chr5:g.74017465_74017485del (hg19) ; chr5:g.74721640_74721660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721644_74721664del , CM000667.2:g.74721644_74721664del	GRCh38
NC_000005.9:g.74017469_74017489del , CM000667.1:g.74017469_74017489del	GRCh37
NC_000005.8:g.74053225_74053245del	NCBI36
NG_009770.1:g.41501_41521del
NG_011531.1:g.50558_50578del
NG_009770.2:g.86622_86642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2335_*15del (GFM2) MANE Select	ENSP00000296805.3:n.[c.2335_*15del;Thr779GlufsTer?]
ENST00000296805.7:c.2335_*15del (GFM2)	ENSP00000296805.3:n.[c.2335_*15del;Thr779GlufsTer?]
ENST00000345239.6:c.2194_*15del (GFM2)	ENSP00000296804.3:n.[c.2194_*15del;Thr732GlufsTer?]
ENST00000503312.5:c.608+208_608+228del (HEXB)
ENST00000505859.1:c.255+208_255+228del (HEXB)
ENST00000509430.5:c.2335_*15del (GFM2)	ENSP00000427004.1:n.[c.2335_*15del;Thr779GlufsTer?]
ENST00000513867.1:n.380+208_380+228del (HEXB)
ENST00000515125.5:n.738_758del (GFM2)
NM_001281302.1:c.2431_*15del (GFM2)	NP_001268231.1:n.[c.2431_*15del;Thr811GlufsTer?]
NM_032380.4:c.2335_*15del (GFM2)	NP_115756.2:n.[c.2335_*15del;Thr779GlufsTer?]
NM_170691.2:c.2194_*15del (GFM2)	NP_733792.1:n.[c.2194_*15del;Thr732GlufsTer?]
NR_104006.1:n.2654_2674del (GFM2)
XM_006714721.2:c.2200_*15del (GFM2)	XP_006714784.1:n.[c.2200_*15del;Thr734GlufsTer?]
XM_011543690.1:c.2335_*15del (GFM2)	XP_011541992.1:n.[c.2335_*15del;Thr779GlufsTer?]
XM_017009986.1:c.2335_*15del (GFM2)	XP_016865475.1:n.[c.2335_*15del;Thr779GlufsTer?]
XR_002956185.1:n.3621_3641del (GFM2)
NM_032380.5:c.2335_*15del (GFM2) MANE Select	NP_115756.2:n.[c.2335_*15del;Thr779GlufsTer?]
NM_001281302.2:c.2431_*15del (GFM2)	NP_001268231.1:n.[c.2431_*15del;Thr811GlufsTer?]
NM_170691.3:c.2194_*15del (GFM2)	NP_733792.1:n.[c.2194_*15del;Thr732GlufsTer?]
NR_104006.2:n.2400_2420del (GFM2)