Canonical Allele Identifier: CA1520091563

Gene: FAT1

Linked Data

• dbSNP Id: rs1738604509
• gnomAD v4: 4-186597820-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597821_186597822del , CM000666.2:g.186597821_186597822del	GRCh38
NC_000004.11:g.187518975_187518976del , CM000666.1:g.187518975_187518976del	GRCh37
NC_000004.10:g.187755969_187755970del	NCBI36
NG_046994.1:g.134094_134095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.12258-30_12258-29del MANE Select	ENSP00000406229.2:n.12258-30_12258-29del
ENST00000441802.6:c.12258-30_12258-29del	ENSP00000406229.2:n.12258-30_12258-29del
ENST00000507105.1:c.54-30_54-29del
ENST00000507662.1:n.157-30_157-29del
ENST00000512347.1:n.450-30_450-29del
ENST00000614102.4:c.12264-30_12264-29del	ENSP00000479573.1:n.12264-30_12264-29del
NM_005245.3:c.12258-30_12258-29del	NP_005236.2:n.12258-30_12258-29del
XM_005262834.2:c.12258-30_12258-29del	XP_005262891.1:n.12258-30_12258-29del
XM_005262835.1:c.12258-30_12258-29del	XP_005262892.1:n.12258-30_12258-29del
XM_006714139.2:c.12258-30_12258-29del	XP_006714202.1:n.12258-30_12258-29del
XM_005262834.3:c.12258-30_12258-29del	XP_005262891.1:n.12258-30_12258-29del
XM_005262835.2:c.12258-30_12258-29del	XP_005262892.1:n.12258-30_12258-29del
XM_006714139.3:c.12258-30_12258-29del	XP_006714202.1:n.12258-30_12258-29del
NM_005245.4:c.12258-30_12258-29del MANE Select	NP_005236.2:n.12258-30_12258-29del