Canonical Allele Identifier: CA1138937629

Gene:

Linked Data

• dbSNP Id: rs2015421817
• gnomAD v3: Y-8707878-T-TTGGTG
• gnomAD v4: Y-8707878-T-TTGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8707886_8707890dup , CM000686.2:g.8707886_8707890dup	GRCh38
NC_000024.9:g.8575927_8575931dup , CM000686.1:g.8575927_8575931dup	GRCh37
NC_000024.8:g.8635927_8635931dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000623558.1:c.139+8854_139+8858dup	ENSP00000485446.1:n.139+8854_139+8858dup
ENST00000624593.1:c.-57+40833_-57+40837dup	ENSP00000485106.1:n.-57+40833_-57+40837du...