Canonical Allele Identifier: CA2585800124

Gene: ERCC1

Linked Data

• gnomAD v4: 19-45420376-C-CAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45420376_45420377insAGG , CM000681.2:g.45420376_45420377insAGG	GRCh38
NC_000019.9:g.45923634_45923635insAGG , CM000681.1:g.45923634_45923635insAGG	GRCh37
NC_000019.8:g.50615474_50615475insAGG	NCBI36
NG_015839.2:g.63452_63453insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710953.1:c.321+801_321+802insCCT	ENSP00000518553.1:n.321+801_321+802insCCT
ENST00000300853.8:c.372_373insCCT MANE Select	ENSP00000300853.3:p.Gly124_Asp125insPro
ENST00000013807.9:c.372_373insCCT	ENSP00000013807.4:p.Gly124_Asp125insPro
ENST00000300853.7:c.372_373insCCT	ENSP00000300853.2:p.Gly124_Asp125insPro
ENST00000340192.11:c.372_373insCCT	ENSP00000345203.6:p.Gly124_Asp125insPro
ENST00000423698.6:c.156_157insCCT	ENSP00000394875.2:p.Gly52_Asp53insPro
ENST00000587888.5:c.6_7insCCT	ENSP00000465225.1:p.Gly2_Asp3insPro
ENST00000588300.1:n.495_496insCCT
ENST00000589165.5:c.372_373insCCT	ENSP00000468035.1:p.Gly124_Asp125insPro
ENST00000589214.1:c.372_373insCCT	ENSP00000465524.1:p.Gly124_Asp125insPro
ENST00000589381.5:c.156_157insCCT	ENSP00000468548.1:p.Gly52_Asp53insPro
ENST00000591636.5:c.372_373insCCT	ENSP00000468119.1:p.Gly124_Asp125insPro
ENST00000592023.5:c.372_373insCCT	ENSP00000468158.1:p.Gly124_Asp125insPro
ENST00000592083.5:c.372_373insCCT	ENSP00000467183.1:p.Gly124_Asp125insPro
ENST00000592905.5:n.429_430insCCT
NM_001166049.1:c.372_373insCCT	NP_001159521.1:p.Gly124_Asp125insPro
NM_001983.3:c.372_373insCCT	NP_001974.1:p.Gly124_Asp125insPro
NM_202001.2:c.372_373insCCT	NP_973730.1:p.Gly124_Asp125insPro
XM_005258634.1:c.372_373insCCT	XP_005258691.1:p.Gly124_Asp125insPro
XM_005258635.2:c.372_373insCCT	XP_005258692.1:p.Gly124_Asp125insPro
XM_005258636.3:c.372_373insCCT	XP_005258693.1:p.Gly124_Asp125insPro
XM_005258637.1:c.372_373insCCT	XP_005258694.1:p.Gly124_Asp125insPro
XM_011526610.1:c.372_373insCCT	XP_011524912.1:p.Gly124_Asp125insPro
XM_005258636.4:c.372_373insCCT	XP_005258693.1:p.Gly124_Asp125insPro
XM_011526610.2:c.372_373insCCT	XP_011524912.1:p.Gly124_Asp125insPro
XM_017026459.1:c.372_373insCCT	XP_016881948.1:p.Gly124_Asp125insPro
XM_017026460.2:c.372_373insCCT	XP_016881949.1:p.Gly124_Asp125insPro
XM_017026461.1:c.372_373insCCT	XP_016881950.1:p.Gly124_Asp125insPro
XM_017026462.1:c.372_373insCCT	XP_016881951.1:p.Gly124_Asp125insPro
XM_017026463.1:c.372_373insCCT	XP_016881952.1:p.Gly124_Asp125insPro
XM_017026464.1:c.372_373insCCT	XP_016881953.1:p.Gly124_Asp125insPro
XM_017026465.1:c.372_373insCCT	XP_016881954.1:p.Gly124_Asp125insPro
XM_017026466.1:c.372_373insCCT	XP_016881955.1:p.Gly124_Asp125insPro
XR_001753631.1:n.449_450insCCT
XR_001753632.1:n.919_920insCCT
NM_001166049.2:c.372_373insCCT	NP_001159521.1:p.Gly124_Asp125insPro
NM_001369408.1:c.372_373insCCT	NP_001356337.1:p.Gly124_Asp125insPro
NM_001369409.1:c.372_373insCCT	NP_001356338.1:p.Gly124_Asp125insPro
NM_001369410.1:c.372_373insCCT	NP_001356339.1:p.Gly124_Asp125insPro
NM_001369411.1:c.372_373insCCT	NP_001356340.1:p.Gly124_Asp125insPro
NM_001369412.1:c.372_373insCCT	NP_001356341.1:p.Gly124_Asp125insPro
NM_001369413.1:c.372_373insCCT	NP_001356342.1:p.Gly124_Asp125insPro
NM_001369414.1:c.372_373insCCT	NP_001356343.1:p.Gly124_Asp125insPro
NM_001369415.1:c.372_373insCCT	NP_001356344.1:p.Gly124_Asp125insPro
NM_001369416.1:c.372_373insCCT	NP_001356345.1:p.Gly124_Asp125insPro
NM_001369417.1:c.372_373insCCT	NP_001356346.1:p.Gly124_Asp125insPro
NM_001369418.1:c.372_373insCCT	NP_001356347.1:p.Gly124_Asp125insPro
NM_001369419.1:c.372_373insCCT	NP_001356348.1:p.Gly124_Asp125insPro
NM_001983.4:c.372_373insCCT MANE Select	NP_001974.1:p.Gly124_Asp125insPro
NM_202001.3:c.372_373insCCT	NP_973730.1:p.Gly124_Asp125insPro