Canonical Allele Identifier: CA2338389518

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353485_45353493delinsCAGTTCTTT , CM000681.2:g.45353485_45353493delinsCAGTTCTTT	GRCh38
NC_000019.9:g.45856743_45856751delinsCAGTTCTTT , CM000681.1:g.45856743_45856751delinsCAGTTCTTT	GRCh37
NC_000019.8:g.50548583_50548591delinsCAGTTCTTT	NCBI36
NG_007067.2:g.22095_22103delinsAAAGAACTG , LRG_461:g.22095_22103delinsAAAGAACTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1666-159_1666-151delinsAAAGAACTG	ENSP00000375808.4:n.1666-159_1666-151deli...
ENST00000682414.1:c.1666-159_1666-151delinsAAAGAACTG	ENSP00000507019.1:n.1666-159_1666-151deli...
ENST00000682508.1:n.1695-159_1695-151delinsAAAGAACTG
ENST00000684218.1:c.*924-159_*924-151delinsAAAGAACTG	ENSP00000507804.1:n.*924-159_*924-151deli...
ENST00000684264.1:n.1222-159_1222-151delinsAAAGAACTG
ENST00000684407.1:c.1543-159_1543-151delinsAAAGAACTG	ENSP00000507775.1:n.1543-159_1543-151deli...
ENST00000684458.1:c.*152-159_*152-151delinsAAAGAACTG	ENSP00000508260.1:n.*152-159_*152-151deli...
ENST00000684468.1:n.1378-159_1378-151delinsAAAGAACTG
ENST00000391945.10:c.1666-159_1666-151delinsAAAGAACTG MANE Select	ENSP00000375809.4:n.1666-159_1666-151deli...
ENST00000587376.6:c.725-159_725-151delinsAAAGAACTG
ENST00000646507.1:n.1763-159_1763-151delinsAAAGAACTG
ENST00000391941.6:c.1594-159_1594-151delinsAAAGAACTG	ENSP00000375805.2:n.1594-159_1594-151deli...
ENST00000391942.6:n.837-159_837-151delinsAAAGAACTG
ENST00000391944.7:c.1432-159_1432-151delinsAAAGAACTG	ENSP00000375808.3:n.1432-159_1432-151deli...
ENST00000391945.8:c.1666-159_1666-151delinsAAAGAACTG	ENSP00000375809.3:n.1666-159_1666-151deli...
ENST00000587376.5:c.725-159_725-151delinsAAAGAACTG
ENST00000588652.5:n.1754-159_1754-151delinsAAAGAACTG
NM_000400.3:c.1666-159_1666-151delinsAAAGAACTG , LRG_461t1:c.1666-159_1666-151delinsAAAGAACTG	NP_000391.1:n.1666-159_1666-151delinsAAAG...
XM_011526611.1:c.1588-159_1588-151delinsAAAGAACTG	XP_011524913.1:n.1588-159_1588-151delinsA...
XR_935763.1:n.1649-159_1649-151delinsAAAGAACTG
XM_011526611.2:c.1588-159_1588-151delinsAAAGAACTG	XP_011524913.1:n.1588-159_1588-151delinsA...
XM_017026467.1:c.1543-159_1543-151delinsAAAGAACTG	XP_016881956.1:n.1543-159_1543-151delinsA...
XR_001753633.2:n.1713-159_1713-151delinsAAAGAACTG
XR_001753634.2:n.1649-159_1649-151delinsAAAGAACTG
NM_000400.4:c.1666-159_1666-151delinsAAAGAACTG MANE Select	NP_000391.1:n.1666-159_1666-151delinsAAAG...