Canonical Allele Identifier: CA1002331746

Gene: NFIA

Linked Data

• gnomAD v3: 1-61408005-T-TTAA
• gnomAD v4: 1-61408005-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61408005_61408006insTAA , CM000663.2:g.61408005_61408006insTAA	GRCh38
NC_000001.10:g.61873677_61873678insTAA , CM000663.1:g.61873677_61873678insTAA	GRCh37
NC_000001.9:g.61646265_61646266insTAA	NCBI36
NG_011787.1:g.335732_335733insTAA
NG_011787.2:g.335732_335733insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482020.2:c.1459+1278_1459+1279insTAA	ENSP00000474806.2:n.1459+1278_1459+1279insTAA
ENST00000699964.1:c.1396+1278_1396+1279insTAA	ENSP00000514720.1:n.1396+1278_1396+1279insTAA
ENST00000699965.1:c.1420+1278_1420+1279insTAA	ENSP00000514721.1:n.1420+1278_1420+1279insTAA
ENST00000699966.1:c.1420+1278_1420+1279insTAA	ENSP00000514722.1:n.1420+1278_1420+1279insTAA
ENST00000699967.1:c.1174+1278_1174+1279insTAA	ENSP00000514723.1:n.1174+1278_1174+1279insTAA
ENST00000699968.1:c.895+1278_895+1279insTAA	ENSP00000514724.1:n.895+1278_895+1279insTAA
ENST00000699986.1:c.1354+1278_1354+1279insTAA	ENSP00000514739.1:n.1354+1278_1354+1279insTAA
ENST00000699987.1:c.1543+1278_1543+1279insTAA	ENSP00000514740.1:n.1543+1278_1543+1279insTAA
ENST00000403491.8:c.1420+1278_1420+1279insTAA MANE Select	ENSP00000384523.3:n.1420+1278_1420+1279insTAA
ENST00000655770.1:c.*467+1278_*467+1279insTAA	ENSP00000499326.1:n.*467+1278_*467+1279insTAA
ENST00000657234.1:c.652+1278_652+1279insTAA	ENSP00000499693.1:n.652+1278_652+1279insTAA
ENST00000662015.1:c.*1044+1278_*1044+1279insTAA	ENSP00000499312.1:n.*1044+1278_*1044+1279insTAA
ENST00000663597.1:c.652+1278_652+1279insTAA	ENSP00000499597.1:n.652+1278_652+1279insTAA
ENST00000664149.1:c.1420+1278_1420+1279insTAA	ENSP00000499651.1:n.1420+1278_1420+1279insTAA
ENST00000664495.1:c.*1512+1278_*1512+1279insTAA	ENSP00000499306.1:n.*1512+1278_*1512+1279insTAA
ENST00000670151.1:c.*487+1278_*487+1279insTAA	ENSP00000499729.1:n.*487+1278_*487+1279insTAA
ENST00000357977.5:c.364+1278_364+1279insTAA	ENSP00000474462.1:n.364+1278_364+1279insTAA
ENST00000371184.6:c.1033+1278_1033+1279insTAA	ENSP00000360226.1:n.1033+1278_1033+1279insTAA
ENST00000371185.6:c.1354+1278_1354+1279insTAA	ENSP00000360227.1:n.1354+1278_1354+1279insTAA
ENST00000371187.7:c.1420+1278_1420+1279insTAA	ENSP00000360229.3:n.1420+1278_1420+1279insTAA
ENST00000371189.8:c.1555+1278_1555+1279insTAA	ENSP00000360231.3:n.1555+1278_1555+1279insTAA
ENST00000371191.5:c.1489+1278_1489+1279insTAA	ENSP00000360233.1:n.1489+1278_1489+1279insTAA
ENST00000403491.7:c.1420+1278_1420+1279insTAA	ENSP00000384523.3:n.1420+1278_1420+1279insTAA
ENST00000407417.7:c.1396+1278_1396+1279insTAA	ENSP00000384680.2:n.1396+1278_1396+1279insTAA
ENST00000485903.6:c.1291+1278_1291+1279insTAA	ENSP00000419785.2:n.1291+1278_1291+1279insTAA
ENST00000493627.1:c.56+1278_56+1279insTAA
NM_001134673.3:c.1420+1278_1420+1279insTAA	NP_001128145.1:n.1420+1278_1420+1279insTAA
NM_001145511.1:c.1396+1278_1396+1279insTAA	NP_001138983.1:n.1396+1278_1396+1279insTAA
NM_001145512.1:c.1555+1278_1555+1279insTAA	NP_001138984.1:n.1555+1278_1555+1279insTAA
NM_005595.4:c.1420+1278_1420+1279insTAA	NP_005586.1:n.1420+1278_1420+1279insTAA
XM_011541512.1:c.1474+1278_1474+1279insTAA	XP_011539814.1:n.1474+1278_1474+1279insTAA
XM_011541513.1:c.1474+1278_1474+1279insTAA	XP_011539815.1:n.1474+1278_1474+1279insTAA
XM_011541514.1:c.1450+1278_1450+1279insTAA	XP_011539816.1:n.1450+1278_1450+1279insTAA
XM_011541515.1:c.1474+1278_1474+1279insTAA	XP_011539817.1:n.1474+1278_1474+1279insTAA
XM_011541512.3:c.1474+1278_1474+1279insTAA	XP_011539814.1:n.1474+1278_1474+1279insTAA
XM_011541514.3:c.1450+1278_1450+1279insTAA	XP_011539816.1:n.1450+1278_1450+1279insTAA
XM_011541515.3:c.1474+1278_1474+1279insTAA	XP_011539817.1:n.1474+1278_1474+1279insTAA
XM_017001362.2:c.1396+1278_1396+1279insTAA	XP_016856851.1:n.1396+1278_1396+1279insTAA
XM_017001363.1:c.706+1278_706+1279insTAA	XP_016856852.1:n.706+1278_706+1279insTAA
NM_001134673.4:c.1420+1278_1420+1279insTAA MANE Select	NP_001128145.1:n.1420+1278_1420+1279insTAA
NM_001145511.2:c.1396+1278_1396+1279insTAA	NP_001138983.1:n.1396+1278_1396+1279insTAA
NM_001145512.2:c.1555+1278_1555+1279insTAA	NP_001138984.1:n.1555+1278_1555+1279insTAA
NM_005595.5:c.1420+1278_1420+1279insTAA	NP_005586.1:n.1420+1278_1420+1279insTAA