Canonical Allele Identifier: CA630051089

Gene: FECH

Linked Data

• dbSNP Id: rs1158035594
• gnomAD v2: 18-55221434-GA-G
• gnomAD v3: 18-57554202-GA-G
• gnomAD v4: 18-57554202-GA-G
• MyVariant Identifiers: chr18:g.55221435del (hg19) ; chr18:g.57554203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554208del , CM000680.2:g.57554208del	GRCh38
NC_000018.9:g.55221440del , CM000680.1:g.55221440del	GRCh37
NC_000018.8:g.53372438del	NCBI36
NG_008175.1:g.37535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682485.1:n.1309del
ENST00000262093.11:c.1077+57del MANE Select	ENSP00000262093.6:n.1077+57del
ENST00000382873.8:c.861+57del	ENSP00000372326.4:n.861+57del
ENST00000651787.1:n.1183+57del
ENST00000652755.1:c.1095+57del	ENSP00000498358.1:n.1095+57del
ENST00000262093.9:c.1077+57del	ENSP00000262093.5:n.1077+57del
ENST00000382873.7:c.1095+57del	ENSP00000372326.3:n.1095+57del
ENST00000585494.5:c.*804+57del	ENSP00000465243.1:n.*804+57del
ENST00000591977.5:c.344+57del
NM_000140.3:c.1077+57del	NP_000131.2:n.1077+57del
NM_001012515.2:c.1095+57del	NP_001012533.1:n.1095+57del
XM_011525881.1:c.996+57del	XP_011524183.1:n.996+57del
XM_011525882.1:c.861+57del	XP_011524184.1:n.861+57del
NM_000140.4:c.1077+57del	NP_000131.2:n.1077+57del
NM_001012515.3:c.1095+57del	NP_001012533.1:n.1095+57del
XM_011525882.2:c.861+57del	XP_011524184.1:n.861+57del
XM_017025614.2:c.978+57del	XP_016881103.1:n.978+57del
NM_000140.5:c.1077+57del MANE Select	NP_000131.2:n.1077+57del
NM_001012515.4:c.1095+57del	NP_001012533.1:n.1095+57del
NM_001371094.1:c.978+57del	NP_001358023.1:n.978+57del
NM_001371095.1:c.861+57del	NP_001358024.1:n.861+57del
NM_001374778.1:c.1077+57del	NP_001361707.1:n.1077+57del