Canonical Allele Identifier: CA2580071728

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186603866_186603867delinsCA , CM000666.2:g.186603866_186603867delinsCA	GRCh38
NC_000004.11:g.187525020_187525021delinsCA , CM000666.1:g.187525020_187525021delinsCA	GRCh37
NC_000004.10:g.187762014_187762015delinsCA	NCBI36
NG_046994.1:g.128049_128050delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.10659_10660delinsTG MANE Select	ENSP00000406229.2:p.Ser3554Ala
ENST00000441802.6:c.10659_10660delinsTG	ENSP00000406229.2:p.Ser3554Ala
ENST00000614102.4:c.10665_10666delinsTG	ENSP00000479573.1:p.Ser3556Ala
NM_005245.3:c.10659_10660delinsTG	NP_005236.2:p.Ser3554Ala
XM_005262834.2:c.10659_10660delinsTG	XP_005262891.1:p.Ser3554Ala
XM_005262835.1:c.10659_10660delinsTG	XP_005262892.1:p.Ser3554Ala
XM_006714139.2:c.10659_10660delinsTG	XP_006714202.1:p.Ser3554Ala
XM_005262834.3:c.10659_10660delinsTG	XP_005262891.1:p.Ser3554Ala
XM_005262835.2:c.10659_10660delinsTG	XP_005262892.1:p.Ser3554Ala
XM_006714139.3:c.10659_10660delinsTG	XP_006714202.1:p.Ser3554Ala
NM_005245.4:c.10659_10660delinsTG MANE Select	NP_005236.2:p.Ser3554Ala