Canonical Allele Identifier: CA645577983

Gene: EPS8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15681274_15681275delinsAA , CM000674.2:g.15681274_15681275delinsAA	GRCh38
NC_000012.11:g.15834208_15834209delinsAA , CM000674.1:g.15834208_15834209delinsAA	GRCh37
NC_000012.10:g.15725475_15725476delinsAA	NCBI36
NG_041808.1:g.113302_113303delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_004447.6:c.87_88delinsTT MANE Select	NP_004438.3:p.Ser30Ter
ENST00000281172.10:c.87_88delinsTT MANE Select	ENSP00000281172.5:p.Ser30Ter
NM_004447.5:c.87_88delinsTT	NP_004438.3:p.Ser30Ter
ENST00000281172.9:c.87_88delinsTT	ENSP00000281172.5:p.Ser30Ter
ENST00000535752.5:c.87_88delinsTT	ENSP00000440591.1:p.Ser30Ter
ENST00000536793.5:c.87_88delinsTT	ENSP00000438668.1:p.Ser30Ter
ENST00000536956.5:c.59+1618_59+1619delinsTT	ENSP00000442883.1:n.59+1618_59+1619delinsTT
ENST00000543363.5:c.87_88delinsTT	ENSP00000444613.1:p.Ser30Ter
ENST00000543468.5:c.87_88delinsTT	ENSP00000445985.1:p.Ser30Ter
ENST00000543523.5:c.87_88delinsTT	ENSP00000441867.1:p.Ser30Ter
ENST00000543612.5:c.87_88delinsTT	ENSP00000442388.1:p.Ser30Ter
ENST00000544064.1:c.87_88delinsTT	ENSP00000445815.1:p.Ser30Ter
ENST00000546311.5:c.87_88delinsTT	ENSP00000445235.1:p.Ser30Ter
ENST00000642278.1:c.87_88delinsTT	ENSP00000494689.1:p.Ser30Ter
ENST00000642939.1:c.87_88delinsTT	ENSP00000495312.1:p.Ser30Ter
ENST00000644374.1:c.87_88delinsTT	ENSP00000495956.1:p.Ser30Ter
ENST00000645775.1:c.87_88delinsTT	ENSP00000495824.1:p.Ser30Ter
ENST00000646123.1:c.87_88delinsTT	ENSP00000494338.1:p.Ser30Ter
ENST00000646828.1:c.87_88delinsTT	ENSP00000494842.1:p.Ser30Ter
ENST00000646918.1:c.87_88delinsTT	ENSP00000495722.1:p.Ser30Ter
ENST00000647087.1:c.87_88delinsTT	ENSP00000496406.1:p.Ser30Ter
ENST00000647224.1:c.87_88delinsTT	ENSP00000496516.1:p.Ser30Ter
XM_005253339.1:c.120_121delinsTT	XP_005253396.1:p.Ser41Ter
XM_005253340.1:c.87_88delinsTT	XP_005253397.1:p.Ser30Ter
XM_006719057.1:c.87_88delinsTT	XP_006719120.1:p.Ser30Ter
XM_011520605.1:c.147_148delinsTT	XP_011518907.1:p.Ser50Ter
XM_011520605.3:c.147_148delinsTT	XP_011518907.1:p.Ser50Ter
XM_011520606.1:c.87_88delinsTT	XP_011518908.1:p.Ser30Ter
XM_024448878.1:c.120_121delinsTT	XP_024304646.1:p.Ser41Ter
XM_024448879.1:c.87_88delinsTT	XP_024304647.1:p.Ser30Ter
XM_024448880.1:c.87_88delinsTT	XP_024304648.1:p.Ser30Ter
XM_024448881.1:c.87_88delinsTT	XP_024304649.1:p.Ser30Ter
XM_024448882.1:c.87_88delinsTT	XP_024304650.1:p.Ser30Ter