Canonical Allele Identifier: CA2338388962

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352665_45352673delinsATGAGAAGC , CM000681.2:g.45352665_45352673delinsATGAGAAGC	GRCh38
NC_000019.9:g.45855923_45855931delinsATGAGAAGC , CM000681.1:g.45855923_45855931delinsATGAGAAGC	GRCh37
NC_000019.8:g.50547763_50547771delinsATGAGAAGC	NCBI36
NG_007067.2:g.22915_22923delinsGCTTCTCAT , LRG_461:g.22915_22923delinsGCTTCTCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-24_1903-16delinsGCTTCTCAT	ENSP00000375808.4:n.1903-24_1903-16delinsGCTTCTCAT
ENST00000682414.1:c.1903-24_1903-16delinsGCTTCTCAT	ENSP00000507019.1:n.1903-24_1903-16delinsGCTTCTCAT
ENST00000682508.1:n.1932-24_1932-16delinsGCTTCTCAT
ENST00000684218.1:c.*1161-24_*1161-16delinsGCTTCTCAT	ENSP00000507804.1:n.*1161-24_*1161-16delinsGCTTCTCAT
ENST00000684264.1:n.1459-24_1459-16delinsGCTTCTCAT
ENST00000684407.1:c.1780-24_1780-16delinsGCTTCTCAT	ENSP00000507775.1:n.1780-24_1780-16delinsGCTTCTCAT
ENST00000684458.1:c.*389-24_*389-16delinsGCTTCTCAT	ENSP00000508260.1:n.*389-24_*389-16delinsGCTTCTCAT
ENST00000684468.1:n.1615-24_1615-16delinsGCTTCTCAT
ENST00000391945.10:c.1903-24_1903-16delinsGCTTCTCAT MANE Select	ENSP00000375809.4:n.1903-24_1903-16delinsGCTTCTCAT
ENST00000646507.1:n.2000-24_2000-16delinsGCTTCTCAT
ENST00000391941.6:c.1831-24_1831-16delinsGCTTCTCAT	ENSP00000375805.2:n.1831-24_1831-16delinsGCTTCTCAT
ENST00000391942.6:n.1074-24_1074-16delinsGCTTCTCAT
ENST00000391944.7:c.1669-24_1669-16delinsGCTTCTCAT	ENSP00000375808.3:n.1669-24_1669-16delinsGCTTCTCAT
ENST00000391945.8:c.1903-24_1903-16delinsGCTTCTCAT	ENSP00000375809.3:n.1903-24_1903-16delinsGCTTCTCAT
ENST00000588652.5:n.1991-24_1991-16delinsGCTTCTCAT
NM_000400.3:c.1903-24_1903-16delinsGCTTCTCAT , LRG_461t1:c.1903-24_1903-16delinsGCTTCTCAT	NP_000391.1:n.1903-24_1903-16delinsGCTTCTCAT
XM_011526611.1:c.1825-24_1825-16delinsGCTTCTCAT	XP_011524913.1:n.1825-24_1825-16delinsGCTTCTCAT
XM_011526611.2:c.1825-24_1825-16delinsGCTTCTCAT	XP_011524913.1:n.1825-24_1825-16delinsGCTTCTCAT
XM_017026467.1:c.1780-24_1780-16delinsGCTTCTCAT	XP_016881956.1:n.1780-24_1780-16delinsGCTTCTCAT
XR_001753633.2:n.1950-24_1950-16delinsGCTTCTCAT
XR_001753634.2:n.1886-24_1886-16delinsGCTTCTCAT
NM_000400.4:c.1903-24_1903-16delinsGCTTCTCAT MANE Select	NP_000391.1:n.1903-24_1903-16delinsGCTTCTCAT