Canonical Allele Identifier: CA908188321

Gene:

Linked Data

• dbSNP Id: rs1182612026
• MyVariant Identifiers: chr3:g.53090920_53090921insATATTGCTGTGAAGCTACAAGATGTTCACA (hg19) ; chr3:g.53056904_53056905insATATTGCTGTGAAGCTACAAGATGTTCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53056906_53056935dup , CM000665.2:g.53056906_53056935dup	GRCh38
NC_000003.11:g.53090922_53090951dup , CM000665.1:g.53090922_53090951dup	GRCh37
NC_000003.10:g.53065962_53065991dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9695_318-9666dup
ENST00000607283.5:c.465-13680_465-13651dup
ENST00000607495.5:c.447+20754_447+20783dup