Canonical Allele Identifier: CA1014783603

Gene:

Linked Data

• gnomAD v3: 20-2470876-G-GCCGAGCAGAGGCGGGGCCTGGGGACTGGGCGTTAACATCCGGC
• gnomAD v4: 20-2470876-G-GCCGAGCAGAGGCGGGGCCTGGGGACTGGGCGTTAACATCCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470877_2470919dup , CM000682.2:g.2470877_2470919dup	GRCh38
NC_000020.10:g.2451523_2451565dup , CM000682.1:g.2451523_2451565dup	GRCh37
NC_000020.9:g.2399523_2399565dup	NCBI36
NG_042057.1:g.4935_4977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3161_305-3119dup	ENSP00000456213.1:n.305-3161_305-3119dup