Canonical Allele Identifier: CA8973253

Gene: FECH

Linked Data

• dbSNP Id: rs767896803
• ExAC: 18:55240463 T / TTA
• gnomAD v2: 18-55240463-T-TTA
• gnomAD v3: 18-57573231-T-TTA
• gnomAD v4: 18-57573231-T-TTA
• MyVariant Identifiers: chr18:g.55240463_55240464insTA (hg19) ; chr18:g.57573231_57573232insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57573239_57573240dup , CM000680.2:g.57573239_57573240dup	GRCh38
NC_000018.9:g.55240471_55240472dup , CM000680.1:g.55240471_55240472dup	GRCh37
NC_000018.8:g.53391469_53391470dup	NCBI36
NG_008175.1:g.18505_18506dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.314+13_314+14dup	ENSP00000466263.1:n.314+13_314+14dup
ENST00000682485.1:n.426+13_426+14dup
ENST00000262093.11:c.314+13_314+14dup MANE Select	ENSP00000262093.6:n.314+13_314+14dup
ENST00000382873.8:c.98+13_98+14dup	ENSP00000372326.4:n.98+13_98+14dup
ENST00000651787.1:n.420+13_420+14dup
ENST00000652755.1:c.332+13_332+14dup	ENSP00000498358.1:n.332+13_332+14dup
ENST00000262093.9:c.314+13_314+14dup	ENSP00000262093.5:n.314+13_314+14dup
ENST00000382873.7:c.332+13_332+14dup	ENSP00000372326.3:n.332+13_332+14dup
ENST00000585494.5:c.314+13_314+14dup	ENSP00000465243.1:n.314+13_314+14dup
ENST00000585699.1:n.266+13_266+14dup
ENST00000585747.1:c.314+13_314+14dup	ENSP00000465717.1:n.314+13_314+14dup
ENST00000585878.1:n.379_380dup
ENST00000591215.5:c.98+13_98+14dup	ENSP00000467461.1:n.98+13_98+14dup
ENST00000592111.1:n.328_329dup
ENST00000592699.5:c.314+13_314+14dup	ENSP00000466263.1:n.314+13_314+14dup
NM_000140.3:c.314+13_314+14dup	NP_000131.2:n.314+13_314+14dup
NM_001012515.2:c.332+13_332+14dup	NP_001012533.1:n.332+13_332+14dup
XM_011525881.1:c.332+13_332+14dup	XP_011524183.1:n.332+13_332+14dup
XM_011525882.1:c.98+13_98+14dup	XP_011524184.1:n.98+13_98+14dup
NM_000140.4:c.314+13_314+14dup	NP_000131.2:n.314+13_314+14dup
NM_001012515.3:c.332+13_332+14dup	NP_001012533.1:n.332+13_332+14dup
XM_011525882.2:c.98+13_98+14dup	XP_011524184.1:n.98+13_98+14dup
XM_017025614.2:c.314+13_314+14dup	XP_016881103.1:n.314+13_314+14dup
NM_000140.5:c.314+13_314+14dup MANE Select	NP_000131.2:n.314+13_314+14dup
NM_001012515.4:c.332+13_332+14dup	NP_001012533.1:n.332+13_332+14dup
NM_001371094.1:c.314+13_314+14dup	NP_001358023.1:n.314+13_314+14dup
NM_001371095.1:c.98+13_98+14dup	NP_001358024.1:n.98+13_98+14dup
NM_001374778.1:c.314+13_314+14dup	NP_001361707.1:n.314+13_314+14dup