Canonical Allele Identifier: CA2609136130

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461584-T-TACAGAGTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461585_49461586insCAGAGTGAAA , CM000672.2:g.49461585_49461586insCAGAGTGAAA	GRCh38
NC_000010.10:g.50669631_50669632insCAGAGTGAAA , CM000672.1:g.50669631_50669632insCAGAGTGAAA	GRCh37
NC_000010.9:g.50339637_50339638insCAGAGTGAAA	NCBI36
NG_009442.1:g.82517_82518insTTCACTCTGT , LRG_465:g.82517_82518insTTCACTCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-29_3779-28insTTCACTCTGT MANE Select	ENSP00000348089.5:n.3779-29_3779-28insTTCACTCTGT
ENST00000679552.1:n.850-29_850-28insTTCACTCTGT
ENST00000679871.1:n.925-29_925-28insTTCACTCTGT
ENST00000679974.1:n.828-29_828-28insTTCACTCTGT
ENST00000681632.1:n.5182-29_5182-28insTTCACTCTGT
ENST00000681659.1:c.3620-29_3620-28insTTCACTCTGT	ENSP00000505631.1:n.3620-29_3620-28insTTCACTCTGT
ENST00000355832.9:c.3779-29_3779-28insTTCACTCTGT	ENSP00000348089.5:n.3779-29_3779-28insTTCACTCTGT
ENST00000465653.1:n.101-29_101-28insTTCACTCTGT
ENST00000623073.3:c.*2075-29_*2075-28insTTCACTCTGT	ENSP00000485650.1:n.*2075-29_*2075-28insTTCACTCTGT
ENST00000623115.3:c.1889-29_1889-28insTTCACTCTGT	ENSP00000485321.1:n.1889-29_1889-28insTTCACTCTGT
ENST00000624341.3:c.1611-29_1611-28insTTCACTCTGT
NM_000124.3:c.3779-29_3779-28insTTCACTCTGT	NP_000115.1:n.3779-29_3779-28insTTCACTCTGT
XR_945953.1:n.243-9980_243-9979insCAGAGTGAAA
NM_001346440.1:c.3779-29_3779-28insTTCACTCTGT	NP_001333369.1:n.3779-29_3779-28insTTCACTCTGT
NM_000124.4:c.3779-29_3779-28insTTCACTCTGT MANE Select	NP_000115.1:n.3779-29_3779-28insTTCACTCTGT
NM_001346440.2:c.3779-29_3779-28insTTCACTCTGT	NP_001333369.1:n.3779-29_3779-28insTTCACTCTGT