Canonical Allele Identifier: CA2668341589

Gene: GFM1 LXN

Linked Data

• gnomAD v4: 3-158646951-ATGAGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158646953_158646958del , CM000665.2:g.158646953_158646958del	GRCh38
NC_000003.11:g.158364742_158364747del , CM000665.1:g.158364742_158364747del	GRCh37
NC_000003.10:g.159847436_159847441del	NCBI36
NG_008441.1:g.7426_7431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.572+6_572+11del (GFM1) MANE Select	ENSP00000419038.1:n.572+6_572+11del
ENST00000264263.9:c.572+6_572+11del (GFM1)	ENSP00000264263.5:n.572+6_572+11del
ENST00000478251.1:n.60+6_60+11del (GFM1)
ENST00000478254.5:c.572+6_572+11del (GFM1)	ENSP00000417225.1:n.572+6_572+11del
ENST00000478576.5:c.572+6_572+11del (GFM1)	ENSP00000418755.1:n.572+6_572+11del
ENST00000482640.5:c.362-748_362-743del (LXN)
ENST00000486715.5:c.572+6_572+11del (GFM1)	ENSP00000419038.1:n.572+6_572+11del
NM_001308164.1:c.572+6_572+11del (GFM1)	NP_001295093.1:n.572+6_572+11del
NM_001308166.1:c.572+6_572+11del (GFM1)	NP_001295095.1:n.572+6_572+11del
NM_024996.5:c.572+6_572+11del (GFM1)	NP_079272.4:n.572+6_572+11del
XM_006713795.1:c.572+6_572+11del (GFM1)	XP_006713858.1:n.572+6_572+11del
XM_006713795.2:c.572+6_572+11del (GFM1)	XP_006713858.1:n.572+6_572+11del
NM_001374355.1:c.572+6_572+11del (GFM1)	NP_001361284.1:n.572+6_572+11del
NM_001374356.1:c.572+6_572+11del (GFM1)	NP_001361285.1:n.572+6_572+11del
NM_001374357.1:c.347+6_347+11del (GFM1)	NP_001361286.1:n.347+6_347+11del
NM_001374358.1:c.234+1172_234+1177del (GFM1)	NP_001361287.1:n.234+1172_234+1177del
NM_001374359.1:c.5+1172_5+1177del (GFM1)	NP_001361288.1:n.5+1172_5+1177del
NM_001374360.1:c.5+1172_5+1177del (GFM1)	NP_001361289.1:n.5+1172_5+1177del
NM_001374361.1:c.5+1172_5+1177del (GFM1)	NP_001361290.1:n.5+1172_5+1177del
NM_024996.7:c.572+6_572+11del (GFM1) MANE Select	NP_079272.4:n.572+6_572+11del
NR_164499.1:n.680+6_680+11del (GFM1)
NR_164500.1:n.680+6_680+11del (GFM1)
NR_164501.1:n.342+1172_342+1177del (GFM1)
NR_164502.1:n.680+6_680+11del (GFM1)
NM_001308164.2:c.572+6_572+11del (GFM1)	NP_001295093.1:n.572+6_572+11del
NM_001308166.2:c.572+6_572+11del (GFM1)	NP_001295095.1:n.572+6_572+11del