Canonical Allele Identifier: CA2579187113

Gene: EYA1

Linked Data

• gnomAD v4: 8-71362150-G-GGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71362150_71362151insGTT , CM000670.2:g.71362150_71362151insGTT	GRCh38
NC_000008.10:g.72274385_72274386insGTT , CM000670.1:g.72274385_72274386insGTT	GRCh37
NC_000008.9:g.72436939_72436940insGTT	NCBI36
NG_011735.2:g.5082_5083insAAC
NG_011735.3:g.190980_190981insAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643681.1:c.34-5640_34-5639insAAC	ENSP00000495390.1:n.34-5640_34-5639insAAC
ENST00000644229.1:c.34-5640_34-5639insAAC	ENSP00000494568.1:n.34-5640_34-5639insAAC
ENST00000644712.1:c.34-5640_34-5639insAAC	ENSP00000496188.1:n.34-5640_34-5639insAAC
ENST00000645793.1:c.-54-5640_-54-5639insAAC	ENSP00000496255.1:n.-54-5640_-54-5639insAAC
ENST00000647540.1:c.-54-5640_-54-5639insAAC	ENSP00000494438.1:n.-54-5640_-54-5639insAAC
ENST00000340726.7:c.-559_-558insAAC	ENSP00000342626.3:n.-559_-558insAAC
NM_000503.5:c.-559_-558insAAC	NP_000494.2:n.-559_-558insAAC
NM_001288574.1:c.-559_-558insAAC	NP_001275503.1:n.-559_-558insAAC
NM_001288575.1:c.-843_-842insAAC	NP_001275504.1:n.-843_-842insAAC
XM_011517481.1:c.22-5640_22-5639insAAC	XP_011515783.1:n.22-5640_22-5639insAAC
XM_011517482.1:c.34-5640_34-5639insAAC	XP_011515784.1:n.34-5640_34-5639insAAC
XM_011517485.1:c.-54-5640_-54-5639insAAC	XP_011515787.1:n.-54-5640_-54-5639insAAC
XM_011517486.1:c.-54-5640_-54-5639insAAC	XP_011515788.1:n.-54-5640_-54-5639insAAC
XM_011517487.1:c.-54-5640_-54-5639insAAC	XP_011515789.1:n.-54-5640_-54-5639insAAC
XM_011517489.1:c.12-5640_12-5639insAAC	XP_011515791.1:n.12-5640_12-5639insAAC
XM_011517491.1:c.-25-5640_-25-5639insAAC	XP_011515793.1:n.-25-5640_-25-5639insAAC
NM_172059.4:c.34-5640_34-5639insAAC	NP_742056.2:n.34-5640_34-5639insAAC
XM_011517484.3:c.34-5640_34-5639insAAC	XP_011515786.2:n.34-5640_34-5639insAAC
XM_017013201.1:c.34-5640_34-5639insAAC	XP_016868690.1:n.34-5640_34-5639insAAC
XM_017013202.1:c.34-5640_34-5639insAAC	XP_016868691.1:n.34-5640_34-5639insAAC
XM_017013203.2:c.34-5640_34-5639insAAC	XP_016868692.1:n.34-5640_34-5639insAAC
XM_017013204.2:c.34-5640_34-5639insAAC	XP_016868693.1:n.34-5640_34-5639insAAC
XM_017013205.2:c.34-5640_34-5639insAAC	XP_016868694.1:n.34-5640_34-5639insAAC
XM_017013206.1:c.-54-5640_-54-5639insAAC	XP_016868695.1:n.-54-5640_-54-5639insAAC
XM_017013207.2:c.34-5640_34-5639insAAC	XP_016868696.1:n.34-5640_34-5639insAAC
XM_017013210.2:c.34-5640_34-5639insAAC	XP_016868699.1:n.34-5640_34-5639insAAC
XM_017013211.2:c.12-5640_12-5639insAAC	XP_016868700.1:n.12-5640_12-5639insAAC
XM_017013212.2:c.-530_-529insAAC	XP_016868701.1:n.-530_-529insAAC
NM_001370333.1:c.34-5640_34-5639insAAC	NP_001357262.1:n.34-5640_34-5639insAAC
NM_001370334.1:c.-54-5640_-54-5639insAAC	NP_001357263.1:n.-54-5640_-54-5639insAAC
NM_001370335.1:c.-54-5640_-54-5639insAAC	NP_001357264.1:n.-54-5640_-54-5639insAAC
NM_001370336.1:c.34-5640_34-5639insAAC	NP_001357265.1:n.34-5640_34-5639insAAC
NM_172059.5:c.34-5640_34-5639insAAC	NP_742056.2:n.34-5640_34-5639insAAC