Canonical Allele Identifier: CA2175954138

Gene: FGF7 FAM227B

Linked Data

• dbSNP Id: rs2051832942
• gnomAD v3: 15-49443162-TTTG-T
• gnomAD v4: 15-49443162-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.49443165_49443167del , CM000677.2:g.49443165_49443167del	GRCh38
NC_000015.9:g.49735362_49735364del , CM000677.1:g.49735362_49735364del	GRCh37
NC_000015.8:g.47522654_47522656del	NCBI36
NG_029159.1:g.24988_24990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267843.9:c.286+18582_286+18584del (FGF7) MANE Select	ENSP00000267843.4:n.286+18582_286+18584del
ENST00000299338.11:c.1012+65046_1012+65048del (FAM227B) MANE Select	ENSP00000299338.6:n.1012+65046_1012+65048del
ENST00000267843.8:c.286+18582_286+18584del (FGF7)	ENSP00000267843.4:n.286+18582_286+18584del
ENST00000299338.10:c.1012+65046_1012+65048del (FAM227B)	ENSP00000299338.6:n.1012+65046_1012+65048del
ENST00000560704.1:n.258+8512_258+8514del (FGF7)
ENST00000560765.6:c.286+18582_286+18584del (FGF7)	ENSP00000453048.1:n.286+18582_286+18584del
ENST00000560979.1:c.112+18582_112+18584del (FGF7)	ENSP00000453980.1:n.112+18582_112+18584del
ENST00000561064.5:c.911-20451_911-20449del (FAM227B)	ENSP00000453028.1:n.911-20451_911-20449del
ENST00000614567.4:c.286+18582_286+18584del (FGF7)	ENSP00000478148.1:n.286+18582_286+18584del
NM_002009.3:c.286+18582_286+18584del (FGF7)	NP_002000.1:n.286+18582_286+18584del
NM_152647.2:c.1012+65046_1012+65048del (FAM227B)	NP_689860.2:n.1012+65046_1012+65048del
XM_005254213.3:c.1012+65046_1012+65048del (FAM227B)	XP_005254270.1:n.1012+65046_1012+65048del
XM_005254214.3:c.1012+65046_1012+65048del (FAM227B)	XP_005254271.1:n.1012+65046_1012+65048del
XM_005254215.3:c.976+65046_976+65048del (FAM227B)	XP_005254272.1:n.976+65046_976+65048del
XM_005254216.3:c.910+65046_910+65048del (FAM227B)	XP_005254273.1:n.910+65046_910+65048del
XM_005254219.3:c.1012+65046_1012+65048del (FAM227B)	XP_005254276.1:n.1012+65046_1012+65048del
XM_006720423.2:c.1012+65046_1012+65048del (FAM227B)	XP_006720486.1:n.1012+65046_1012+65048del
XM_006720424.2:c.1012+65046_1012+65048del (FAM227B)	XP_006720487.1:n.1012+65046_1012+65048del
XM_006720426.2:c.871+65046_871+65048del (FAM227B)	XP_006720489.1:n.871+65046_871+65048del
XM_006720427.2:c.763+65046_763+65048del (FAM227B)	XP_006720490.1:n.763+65046_763+65048del
XM_011521318.1:c.1012+65046_1012+65048del (FAM227B)	XP_011519620.1:n.1012+65046_1012+65048del
XM_011521319.1:c.1012+65046_1012+65048del (FAM227B)	XP_011519621.1:n.1012+65046_1012+65048del
XM_011521320.1:c.610+65046_610+65048del (FAM227B)	XP_011519622.1:n.610+65046_610+65048del
XM_011521321.1:c.1012+65046_1012+65048del (FAM227B)	XP_011519623.1:n.1012+65046_1012+65048del
XM_011521322.1:c.574+65046_574+65048del (FAM227B)	XP_011519624.1:n.574+65046_574+65048del
XM_011521323.1:c.1013-7887_1013-7885del (FAM227B)	XP_011519625.1:n.1013-7887_1013-7885del
XM_011521324.1:c.1013-20451_1013-20449del (FAM227B)	XP_011519626.1:n.1013-20451_1013-20449del
XM_011521325.1:c.1013-3908_1013-3906del (FAM227B)	XP_011519627.1:n.1013-3908_1013-3906del
XM_011521326.1:c.911-20451_911-20449del (FAM227B)	XP_011519628.1:n.911-20451_911-20449del
XR_931762.1:n.1384-7887_1384-7885del (FAM227B)
XR_931763.1:n.1384-3908_1384-3906del (FAM227B)
XR_931764.1:n.1384-3908_1384-3906del (FAM227B)
NM_001330293.1:c.911-20451_911-20449del (FAM227B)	NP_001317222.1:n.911-20451_911-20449del
XM_006720423.3:c.1012+65046_1012+65048del (FAM227B)	XP_006720486.1:n.1012+65046_1012+65048del
XM_006720427.4:c.763+65046_763+65048del (FAM227B)	XP_006720490.1:n.763+65046_763+65048del
XM_011521319.2:c.1012+65046_1012+65048del (FAM227B)	XP_011519621.1:n.1012+65046_1012+65048del
XM_011521321.2:c.1012+65046_1012+65048del (FAM227B)	XP_011519623.1:n.1012+65046_1012+65048del
XM_011521325.3:c.1013-3908_1013-3906del (FAM227B)	XP_011519627.1:n.1013-3908_1013-3906del
XM_017021990.1:c.769+65046_769+65048del (FAM227B)	XP_016877479.1:n.769+65046_769+65048del
XM_017021991.2:c.763+65046_763+65048del (FAM227B)	XP_016877480.1:n.763+65046_763+65048del
XM_017021992.1:c.712+65046_712+65048del (FAM227B)	XP_016877481.1:n.712+65046_712+65048del
XM_017021993.1:c.769+65046_769+65048del (FAM227B)	XP_016877482.1:n.769+65046_769+65048del
XM_017021994.1:c.670+65046_670+65048del (FAM227B)	XP_016877483.1:n.670+65046_670+65048del
XM_017021995.1:c.1012+65046_1012+65048del (FAM227B)	XP_016877484.1:n.1012+65046_1012+65048del
XM_017021996.1:c.610+65046_610+65048del (FAM227B)	XP_016877485.1:n.610+65046_610+65048del
XM_024449861.1:c.661+65046_661+65048del (FAM227B)	XP_024305629.1:n.661+65046_661+65048del
XM_024449865.1:c.872-20451_872-20449del (FAM227B)	XP_024305633.1:n.872-20451_872-20449del
XM_024449866.1:c.670+65046_670+65048del (FAM227B)	XP_024305634.1:n.670+65046_670+65048del
NM_002009.4:c.286+18582_286+18584del (FGF7) MANE Select	NP_002000.1:n.286+18582_286+18584del
NM_001330293.2:c.911-20451_911-20449del (FAM227B)	NP_001317222.1:n.911-20451_911-20449del
NM_152647.3:c.1012+65046_1012+65048del (FAM227B) MANE Select	NP_689860.2:n.1012+65046_1012+65048del