Canonical Allele Identifier: CA1751419005

Gene:

Linked Data

• dbSNP Id: rs1691256602
• gnomAD v4: 7-148807248-T-TATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807250_148807253dup , CM000669.2:g.148807250_148807253dup	GRCh38
NC_000007.13:g.148504342_148504345dup , CM000669.1:g.148504342_148504345dup	GRCh37
NC_000007.12:g.148135275_148135278dup	NCBI36
NG_032043.1:g.82098_82101dup , LRG_531:g.82098_82101dup

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2165_515+2168dup
XR_928102.1:n.722+2165_722+2168dup