Canonical Allele Identifier: CA1062621896

Gene:

Linked Data

• gnomAD v3: 4-54072300-T-TA
• gnomAD v4: 4-54072300-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072300_54072301insA , CM000666.2:g.54072300_54072301insA	GRCh38
NC_000004.11:g.54938467_54938468insA , CM000666.1:g.54938467_54938468insA	GRCh37
NC_000004.10:g.54633224_54633225insA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507166.5:c.1018-202625_1018-202624insA	ENSP00000423325.1:n.1018-202625_1018-2026...