Canonical Allele Identifier: CA813921273

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1468605297
• gnomAD v3: 5-74721635-C-CTCTCCAAAAACTAAAACATT
• gnomAD v4: 5-74721635-C-CTCTCCAAAAACTAAAACATT
• MyVariant Identifiers: chr5:g.74017460_74017461insTCTCCAAAAACTAAAACATT (hg19) ; chr5:g.74721635_74721636insTCTCCAAAAACTAAAACATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721637_74721656dup , CM000667.2:g.74721637_74721656dup	GRCh38
NC_000005.9:g.74017462_74017481dup , CM000667.1:g.74017462_74017481dup	GRCh37
NC_000005.8:g.74053218_74053237dup	NCBI36
NG_009770.1:g.41494_41513dup
NG_011531.1:g.50563_50582dup
NG_009770.2:g.86615_86634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2340_*19dup (GFM2) MANE Select	ENSP00000296805.3:n.2340_*19dup
ENST00000296805.7:c.2340_*19dup (GFM2)	ENSP00000296805.3:n.2340_*19dup
ENST00000345239.6:c.2199_*19dup (GFM2)	ENSP00000296804.3:n.2199_*19dup
ENST00000503312.5:c.608+201_608+220dup (HEXB)
ENST00000505859.1:c.255+201_255+220dup (HEXB)
ENST00000509430.5:c.2340_*19dup (GFM2)	ENSP00000427004.1:n.2340_*19dup
ENST00000513867.1:n.380+201_380+220dup (HEXB)
ENST00000515125.5:n.743_762dup (GFM2)
NM_001281302.1:c.2436_*19dup (GFM2)	NP_001268231.1:n.2436_*19dup
NM_032380.4:c.2340_*19dup (GFM2)	NP_115756.2:n.2340_*19dup
NM_170691.2:c.2199_*19dup (GFM2)	NP_733792.1:n.2199_*19dup
NR_104006.1:n.2659_2678dup (GFM2)
XM_006714721.2:c.2205_*19dup (GFM2)	XP_006714784.1:n.2205_*19dup
XM_011543690.1:c.2340_*19dup (GFM2)	XP_011541992.1:n.2340_*19dup
XM_017009986.1:c.2340_*19dup (GFM2)	XP_016865475.1:n.2340_*19dup
XR_002956185.1:n.3626_3645dup (GFM2)
NM_032380.5:c.2340_*19dup (GFM2) MANE Select	NP_115756.2:n.2340_*19dup
NM_001281302.2:c.2436_*19dup (GFM2)	NP_001268231.1:n.2436_*19dup
NM_170691.3:c.2199_*19dup (GFM2)	NP_733792.1:n.2199_*19dup
NR_104006.2:n.2405_2424dup (GFM2)