Canonical Allele Identifier: CA1108532866

Gene:

Linked Data

• dbSNP Id: rs1801699551
• gnomAD v3: 7-148807213-ATG-A
• gnomAD v4: 7-148807213-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807214_148807215del , CM000669.2:g.148807214_148807215del	GRCh38
NC_000007.13:g.148504306_148504307del , CM000669.1:g.148504306_148504307del	GRCh37
NC_000007.12:g.148135239_148135240del	NCBI36
NG_032043.1:g.82135_82136del , LRG_531:g.82135_82136del

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2129_515+2130del
XR_928102.1:n.722+2129_722+2130del