Canonical Allele Identifier: CA2787930332

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493483_49493487del , CM000672.2:g.49493483_49493487del	GRCh38
NC_000010.10:g.50701529_50701533del , CM000672.1:g.50701529_50701533del	GRCh37
NC_000010.9:g.50371535_50371539del	NCBI36
NG_009442.1:g.50615_50619del , LRG_465:g.50615_50619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-235_1686-231del MANE Select	ENSP00000348089.5:n.1686-235_1686-231del
ENST00000681632.1:n.1764-235_1764-231del
ENST00000681659.1:c.1527-235_1527-231del	ENSP00000505631.1:n.1527-235_1527-231del
ENST00000355832.9:c.1686-235_1686-231del	ENSP00000348089.5:n.1686-235_1686-231del
ENST00000475116.1:n.275+7051_275+7055del
ENST00000623073.3:c.87-235_87-231del	ENSP00000485650.1:n.87-235_87-231del
ENST00000623115.3:c.-70+7051_-70+7055del	ENSP00000485321.1:n.-70+7051_-70+7055del
ENST00000623318.1:c.87-235_87-231del	ENSP00000485423.1:n.87-235_87-231del
NM_000124.3:c.1686-235_1686-231del	NP_000115.1:n.1686-235_1686-231del
NM_001346440.1:c.1686-235_1686-231del	NP_001333369.1:n.1686-235_1686-231del
NM_000124.4:c.1686-235_1686-231del MANE Select	NP_000115.1:n.1686-235_1686-231del
NM_001346440.2:c.1686-235_1686-231del	NP_001333369.1:n.1686-235_1686-231del