Canonical Allele Identifier: CA3164879

Gene: FAT1

Linked Data

• dbSNP Id: rs758627924
• ExAC: 4:187518981 GA / G
• gnomAD v2: 4-187518981-GA-G
• gnomAD v3: 4-186597827-GA-G
• gnomAD v4: 4-186597827-GA-G
• MyVariant Identifiers: chr4:g.187518982del (hg19) ; chr4:g.186597828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597828del , CM000666.2:g.186597828del	GRCh38
NC_000004.11:g.187518982del , CM000666.1:g.187518982del	GRCh37
NC_000004.10:g.187755976del	NCBI36
NG_046994.1:g.134088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.12258-36del MANE Select	ENSP00000406229.2:n.12258-36del
ENST00000441802.6:c.12258-36del	ENSP00000406229.2:n.12258-36del
ENST00000507105.1:c.54-36del
ENST00000507662.1:n.157-36del
ENST00000512347.1:n.450-36del
ENST00000614102.4:c.12264-36del	ENSP00000479573.1:n.12264-36del
NM_005245.3:c.12258-36del	NP_005236.2:n.12258-36del
XM_005262834.2:c.12258-36del	XP_005262891.1:n.12258-36del
XM_005262835.1:c.12258-36del	XP_005262892.1:n.12258-36del
XM_006714139.2:c.12258-36del	XP_006714202.1:n.12258-36del
XM_005262834.3:c.12258-36del	XP_005262891.1:n.12258-36del
XM_005262835.2:c.12258-36del	XP_005262892.1:n.12258-36del
XM_006714139.3:c.12258-36del	XP_006714202.1:n.12258-36del
NM_005245.4:c.12258-36del MANE Select	NP_005236.2:n.12258-36del