Canonical Allele Identifier: CA938825257

Gene: FERMT3

Linked Data

• dbSNP Id: rs1946438260
• gnomAD v3: 11-64211499-CCT-C
• gnomAD v4: 11-64211499-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64211500_64211501del , CM000673.2:g.64211500_64211501del	GRCh38
NC_000011.9:g.63978972_63978973del , CM000673.1:g.63978972_63978973del	GRCh37
NC_000011.8:g.63735548_63735549del	NCBI36
NG_016360.1:g.9821_9822del , LRG_180:g.9821_9822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.683+57_683+58del	ENSP00000279227.5:n.683+57_683+58del
ENST00000541252.2:c.143+57_143+58del	ENSP00000438885.2:n.143+57_143+58del
ENST00000544997.6:c.683+57_683+58del	ENSP00000445778.2:n.683+57_683+58del
ENST00000546255.2:n.777+57_777+58del
ENST00000698845.1:c.683+57_683+58del	ENSP00000513981.1:n.683+57_683+58del
ENST00000698846.1:n.820+57_820+58del
ENST00000698847.1:c.*88+57_*88+58del	ENSP00000513982.1:n.*88+57_*88+58del
ENST00000698852.1:c.683+57_683+58del	ENSP00000513984.1:n.683+57_683+58del
ENST00000698853.1:c.683+57_683+58del	ENSP00000513985.1:n.683+57_683+58del
ENST00000698854.1:c.683+57_683+58del	ENSP00000513986.1:n.683+57_683+58del
ENST00000698855.1:n.2335+57_2335+58del
ENST00000698856.1:n.1603+57_1603+58del
ENST00000698859.1:n.847+57_847+58del
ENST00000698860.1:c.683+57_683+58del	ENSP00000513988.1:n.683+57_683+58del
ENST00000698861.1:c.683+57_683+58del	ENSP00000513989.1:n.683+57_683+58del
ENST00000698862.1:c.683+57_683+58del	ENSP00000513990.1:n.683+57_683+58del
ENST00000698863.1:c.683+57_683+58del	ENSP00000513991.1:n.683+57_683+58del
ENST00000698864.1:n.789+57_789+58del
ENST00000698865.1:c.683+57_683+58del	ENSP00000513992.1:n.683+57_683+58del
ENST00000698866.1:c.*88+57_*88+58del	ENSP00000513993.1:n.*88+57_*88+58del
ENST00000698867.1:n.4392+57_4392+58del
ENST00000698868.1:c.683+57_683+58del	ENSP00000513994.1:n.683+57_683+58del
ENST00000698869.1:c.683+57_683+58del	ENSP00000513995.1:n.683+57_683+58del
ENST00000698870.1:c.683+57_683+58del	ENSP00000513996.1:n.683+57_683+58del
ENST00000698871.1:n.940+57_940+58del
ENST00000698872.1:c.143+57_143+58del	ENSP00000513997.1:n.143+57_143+58del
ENST00000698873.1:c.143+57_143+58del	ENSP00000513998.1:n.143+57_143+58del
ENST00000698874.1:c.143+57_143+58del	ENSP00000513999.1:n.143+57_143+58del
ENST00000698875.1:n.399_400del
ENST00000698878.1:c.683+57_683+58del	ENSP00000514000.1:n.683+57_683+58del
ENST00000698879.1:c.523+57_523+58del
ENST00000698880.1:c.523+57_523+58del
ENST00000345728.10:c.683+57_683+58del MANE Select	ENSP00000339950.5:n.683+57_683+58del
ENST00000279227.9:c.683+57_683+58del	ENSP00000279227.5:n.683+57_683+58del
ENST00000345728.9:c.683+57_683+58del	ENSP00000339950.5:n.683+57_683+58del
ENST00000541252.1:c.143+57_143+58del	ENSP00000438885.1:n.143+57_143+58del
ENST00000544997.5:c.683+57_683+58del	ENSP00000445778.1:n.683+57_683+58del
NM_031471.5:c.683+57_683+58del	NP_113659.3:n.683+57_683+58del
NM_178443.2:c.683+57_683+58del , LRG_180t1:c.683+57_683+58del	NP_848537.1:n.683+57_683+58del
XM_011545294.1:c.683+57_683+58del	XP_011543596.1:n.683+57_683+58del
XM_011545295.1:c.143+57_143+58del	XP_011543597.1:n.143+57_143+58del
XM_011545296.1:c.143+57_143+58del	XP_011543598.1:n.143+57_143+58del
XM_011545294.3:c.683+57_683+58del	XP_011543596.1:n.683+57_683+58del
XM_011545295.2:c.143+57_143+58del	XP_011543597.1:n.143+57_143+58del
XM_017018398.2:c.683+57_683+58del	XP_016873887.1:n.683+57_683+58del
XM_017018399.1:c.143+57_143+58del	XP_016873888.1:n.143+57_143+58del
NM_031471.6:c.683+57_683+58del MANE Select	NP_113659.3:n.683+57_683+58del
NM_001382361.1:c.683+57_683+58del	NP_001369290.1:n.683+57_683+58del
NM_001382362.1:c.683+57_683+58del	NP_001369291.1:n.683+57_683+58del
NM_001382363.1:c.143+57_143+58del	NP_001369292.1:n.143+57_143+58del
NM_001382364.1:c.143+57_143+58del	NP_001369293.1:n.143+57_143+58del
NM_001382448.1:c.683+57_683+58del	NP_001369377.1:n.683+57_683+58del
NM_178443.3:c.683+57_683+58del	NP_848537.1:n.683+57_683+58del