Canonical Allele Identifier: CA1908745340

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461098_49461101delinsTAAC , CM000672.2:g.49461098_49461101delinsTAAC	GRCh38
NC_000010.10:g.50669144_50669147delinsTAAC , CM000672.1:g.50669144_50669147delinsTAAC	GRCh37
NC_000010.9:g.50339150_50339153delinsTAAC	NCBI36
NG_009442.1:g.83001_83004delinsGTTA , LRG_465:g.83001_83004delinsGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+251_3983+254delinsGTTA MANE Select	ENSP00000348089.5:n.3983+251_3983+254delinsGTTA
ENST00000679552.1:n.1054+251_1054+254delinsGTTA
ENST00000679871.1:n.1129+251_1129+254delinsGTTA
ENST00000679974.1:n.1032+251_1032+254delinsGTTA
ENST00000681632.1:n.5386+251_5386+254delinsGTTA
ENST00000681659.1:c.3824+251_3824+254delinsGTTA	ENSP00000505631.1:n.3824+251_3824+254delinsGTTA
ENST00000355832.9:c.3983+251_3983+254delinsGTTA	ENSP00000348089.5:n.3983+251_3983+254delinsGTTA
ENST00000465653.1:n.305+251_305+254delinsGTTA
ENST00000623073.3:c.*2279+251_*2279+254delinsGTTA	ENSP00000485650.1:n.*2279+251_*2279+254delinsGTTA
ENST00000623115.3:c.2093+251_2093+254delinsGTTA	ENSP00000485321.1:n.2093+251_2093+254delinsGTTA
ENST00000624341.3:c.1815+251_1815+254delinsGTTA
NM_000124.3:c.3983+251_3983+254delinsGTTA	NP_000115.1:n.3983+251_3983+254delinsGTTA
XR_945953.1:n.243-10467_243-10464delinsTAAC
NM_001346440.1:c.3983+251_3983+254delinsGTTA	NP_001333369.1:n.3983+251_3983+254delinsGTTA
NM_000124.4:c.3983+251_3983+254delinsGTTA MANE Select	NP_000115.1:n.3983+251_3983+254delinsGTTA
NM_001346440.2:c.3983+251_3983+254delinsGTTA	NP_001333369.1:n.3983+251_3983+254delinsGTTA