Canonical Allele Identifier: CA300852897

Gene: FECH

Linked Data

• ClinVar Variation Id: 1183026
• ClinVar RCV Id: RCV001540784
• dbSNP Id: rs58628398
• gnomAD v2: 18-55221368-GAGGACAC-G
• gnomAD v3: 18-57554136-GAGGACAC-G
• gnomAD v4: 18-57554136-GAGGACAC-G
• MyVariant Identifiers: chr18:g.55221369_55221375del (hg19) ; chr18:g.57554137_57554143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554137_57554143del , CM000680.2:g.57554137_57554143del	GRCh38
NC_000018.9:g.55221369_55221375del , CM000680.1:g.55221369_55221375del	GRCh37
NC_000018.8:g.53372367_53372373del	NCBI36
NG_008175.1:g.37595_37601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682485.1:n.1369_1375del
ENST00000262093.11:c.1077+117_1077+123del MANE Select	ENSP00000262093.6:n.1077+117_1077+123del
ENST00000382873.8:c.861+117_861+123del	ENSP00000372326.4:n.861+117_861+123del
ENST00000651787.1:n.1183+117_1183+123del
ENST00000652755.1:c.1095+117_1095+123del	ENSP00000498358.1:n.1095+117_1095+123del
ENST00000262093.9:c.1077+117_1077+123del	ENSP00000262093.5:n.1077+117_1077+123del
ENST00000382873.7:c.1095+117_1095+123del	ENSP00000372326.3:n.1095+117_1095+123del
ENST00000585494.5:c.*804+117_*804+123del	ENSP00000465243.1:n.*804+117_*804+123del
ENST00000591977.5:c.344+117_344+123del
NM_000140.3:c.1077+117_1077+123del	NP_000131.2:n.1077+117_1077+123del
NM_001012515.2:c.1095+117_1095+123del	NP_001012533.1:n.1095+117_1095+123del
XM_011525881.1:c.996+117_996+123del	XP_011524183.1:n.996+117_996+123del
XM_011525882.1:c.861+117_861+123del	XP_011524184.1:n.861+117_861+123del
NM_000140.4:c.1077+117_1077+123del	NP_000131.2:n.1077+117_1077+123del
NM_001012515.3:c.1095+117_1095+123del	NP_001012533.1:n.1095+117_1095+123del
XM_011525882.2:c.861+117_861+123del	XP_011524184.1:n.861+117_861+123del
XM_017025614.2:c.978+117_978+123del	XP_016881103.1:n.978+117_978+123del
NM_000140.5:c.1077+117_1077+123del MANE Select	NP_000131.2:n.1077+117_1077+123del
NM_001012515.4:c.1095+117_1095+123del	NP_001012533.1:n.1095+117_1095+123del
NM_001371094.1:c.978+117_978+123del	NP_001358023.1:n.978+117_978+123del
NM_001371095.1:c.861+117_861+123del	NP_001358024.1:n.861+117_861+123del
NM_001374778.1:c.1077+117_1077+123del	NP_001361707.1:n.1077+117_1077+123del