Canonical Allele Identifier: CA996308487

Gene: ERCC1

Linked Data

• gnomAD v3: 19-45459354-A-AT
• gnomAD v4: 19-45459354-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45459354_45459355insT , CM000681.2:g.45459354_45459355insT	GRCh38
NC_000019.9:g.45962612_45962613insT , CM000681.1:g.45962612_45962613insT	GRCh37
NC_000019.8:g.50654452_50654453insT	NCBI36
NG_015839.2:g.24474_24475insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423698.6:c.-8+19381_-8+19382insA	ENSP00000394875.2:n.-8+19381_-8+19382insA
XM_005258636.3:c.-8+19381_-8+19382insA	XP_005258693.1:n.-8+19381_-8+19382insA
XM_005258636.4:c.-8+19381_-8+19382insA	XP_005258693.1:n.-8+19381_-8+19382insA
XM_017026464.1:c.-8+19381_-8+19382insA	XP_016881953.1:n.-8+19381_-8+19382insA