Canonical Allele Identifier: CA2605469260

Gene:

Linked Data

• dbSNP Id: rs2129464910
• gnomAD v3: 7-148807236-A-ATGTCT
• gnomAD v4: 7-148807236-A-ATGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807238_148807242dup , CM000669.2:g.148807238_148807242dup	GRCh38
NC_000007.13:g.148504330_148504334dup , CM000669.1:g.148504330_148504334dup	GRCh37
NC_000007.12:g.148135263_148135267dup	NCBI36
NG_032043.1:g.82109_82113dup , LRG_531:g.82109_82113dup

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2153_515+2157dup
XR_928102.1:n.722+2153_722+2157dup