Canonical Allele Identifier: CA835018759

Gene:

Linked Data

• dbSNP Id: rs1482897120
• gnomAD v3: 7-148807236-A-ATGTC
• gnomAD v4: 7-148807236-A-ATGTC
• MyVariant Identifiers: chr7:g.148504328_148504329insTGTC (hg19) ; chr7:g.148807236_148807237insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807238_148807241dup , CM000669.2:g.148807238_148807241dup	GRCh38
NC_000007.13:g.148504330_148504333dup , CM000669.1:g.148504330_148504333dup	GRCh37
NC_000007.12:g.148135263_148135266dup	NCBI36
NG_032043.1:g.82110_82113dup , LRG_531:g.82110_82113dup

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2153_515+2156dup
XR_928102.1:n.722+2153_722+2156dup