Canonical Allele Identifier: CA593367700

Gene: ERCC6

Linked Data

• dbSNP Id: rs1203240978
• gnomAD v2: 10-50701519-TAAGAG-T
• gnomAD v3: 10-49493473-TAAGAG-T
• gnomAD v4: 10-49493473-TAAGAG-T
• MyVariant Identifiers: chr10:g.50701520_50701524del (hg19) ; chr10:g.49493474_49493478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493476_49493480del , CM000672.2:g.49493476_49493480del	GRCh38
NC_000010.10:g.50701522_50701526del , CM000672.1:g.50701522_50701526del	GRCh37
NC_000010.9:g.50371528_50371532del	NCBI36
NG_009442.1:g.50624_50628del , LRG_465:g.50624_50628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-226_1686-222del MANE Select	ENSP00000348089.5:n.1686-226_1686-222del
ENST00000681632.1:n.1764-226_1764-222del
ENST00000681659.1:c.1527-226_1527-222del	ENSP00000505631.1:n.1527-226_1527-222del
ENST00000355832.9:c.1686-226_1686-222del	ENSP00000348089.5:n.1686-226_1686-222del
ENST00000475116.1:n.275+7060_275+7064del
ENST00000623073.3:c.87-226_87-222del	ENSP00000485650.1:n.87-226_87-222del
ENST00000623115.3:c.-70+7060_-70+7064del	ENSP00000485321.1:n.-70+7060_-70+7064del
ENST00000623318.1:c.87-226_87-222del	ENSP00000485423.1:n.87-226_87-222del
NM_000124.3:c.1686-226_1686-222del	NP_000115.1:n.1686-226_1686-222del
NM_001346440.1:c.1686-226_1686-222del	NP_001333369.1:n.1686-226_1686-222del
NM_000124.4:c.1686-226_1686-222del MANE Select	NP_000115.1:n.1686-226_1686-222del
NM_001346440.2:c.1686-226_1686-222del	NP_001333369.1:n.1686-226_1686-222del