Canonical Allele Identifier: CA977194938

Gene:

Linked Data

• dbSNP Id: rs2037534319
• gnomAD v3: 16-50109054-T-TTAAA
• gnomAD v4: 16-50109054-T-TTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109054_50109055insTAAA , CM000678.2:g.50109054_50109055insTAAA	GRCh38
NC_000016.9:g.50142965_50142966insTAAA , CM000678.1:g.50142965_50142966insTAAA	GRCh37
NC_000016.8:g.48700466_48700467insTAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2403_115-2402insTTTA	XP_011521792.1:n.115-2403_115-2402insTTTA