Canonical Allele Identifier: CA2674242232

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721619-A-AAAAATTGTTCTTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721619_74721620insAAAATTGTTCTTACT , CM000667.2:g.74721619_74721620insAAAATTGTTCTTACT	GRCh38
NC_000005.9:g.74017444_74017445insAAAATTGTTCTTACT , CM000667.1:g.74017444_74017445insAAAATTGTTCTTACT	GRCh37
NC_000005.8:g.74053200_74053201insAAAATTGTTCTTACT	NCBI36
NG_009770.1:g.41476_41477insAAAATTGTTCTTACT
NG_011531.1:g.50598_50599insAGTAAGAACAATTTT
NG_009770.2:g.86597_86598insAAAATTGTTCTTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*35_*36insAGTAAGAACAATTTT (GFM2) MANE Select	ENSP00000296805.3:n.*35_*36insAGTAAGAACAATTTT
ENST00000296805.7:c.*35_*36insAGTAAGAACAATTTT (GFM2)	ENSP00000296805.3:n.*35_*36insAGTAAGAACAATTTT
ENST00000345239.6:c.*35_*36insAGTAAGAACAATTTT (GFM2)	ENSP00000296804.3:n.*35_*36insAGTAAGAACAATTTT
ENST00000503312.5:c.608+183_608+184insAAAATTGTTCTTACT (HEXB)
ENST00000505859.1:c.255+183_255+184insAAAATTGTTCTTACT (HEXB)
ENST00000509430.5:c.*35_*36insAGTAAGAACAATTTT (GFM2)	ENSP00000427004.1:n.*35_*36insAGTAAGAACAATTTT
ENST00000513867.1:n.380+183_380+184insAAAATTGTTCTTACT (HEXB)
ENST00000515125.5:n.778_779insAGTAAGAACAATTTT (GFM2)
NM_001281302.1:c.*35_*36insAGTAAGAACAATTTT (GFM2)	NP_001268231.1:n.*35_*36insAGTAAGAACAATTTT
NM_032380.4:c.*35_*36insAGTAAGAACAATTTT (GFM2)	NP_115756.2:n.*35_*36insAGTAAGAACAATTTT
NM_170691.2:c.*35_*36insAGTAAGAACAATTTT (GFM2)	NP_733792.1:n.*35_*36insAGTAAGAACAATTTT
NR_104006.1:n.2694_2695insAGTAAGAACAATTTT (GFM2)
XM_006714721.2:c.*35_*36insAGTAAGAACAATTTT (GFM2)	XP_006714784.1:n.*35_*36insAGTAAGAACAATTTT
XM_011543690.1:c.*35_*36insAGTAAGAACAATTTT (GFM2)	XP_011541992.1:n.*35_*36insAGTAAGAACAATTTT
XM_017009986.1:c.*35_*36insAGTAAGAACAATTTT (GFM2)	XP_016865475.1:n.*35_*36insAGTAAGAACAATTTT
XR_002956185.1:n.3661_3662insAGTAAGAACAATTTT (GFM2)
NM_032380.5:c.*35_*36insAGTAAGAACAATTTT (GFM2) MANE Select	NP_115756.2:n.*35_*36insAGTAAGAACAATTTT
NM_001281302.2:c.*35_*36insAGTAAGAACAATTTT (GFM2)	NP_001268231.1:n.*35_*36insAGTAAGAACAATTTT
NM_170691.3:c.*35_*36insAGTAAGAACAATTTT (GFM2)	NP_733792.1:n.*35_*36insAGTAAGAACAATTTT
NR_104006.2:n.2440_2441insAGTAAGAACAATTTT (GFM2)