Canonical Allele Identifier: CA103120430

Gene:

Linked Data

• dbSNP Id: rs28362491
• gnomAD v2: 4-103422154-CATTG-C
• gnomAD v3: 4-102500997-CATTG-C
• gnomAD v4: 4-102500997-CATTG-C
• MyVariant Identifiers: chr4:g.103422155_103422158del (hg19) ; chr4:g.102500998_102501001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501002_102501005del , CM000666.2:g.102501002_102501005del	GRCh38
NC_000004.11:g.103422159_103422162del , CM000666.1:g.103422159_103422162del	GRCh37
NC_000004.10:g.103641191_103641194del	NCBI36
NG_050628.1:g.4674_4677del

Transcript Alleles

HGVS	Amino-acid change
XM_011532467.1:c.643+248_643+251del	XP_011530769.1:n.643+248_643+251del
NR_136202.1:n.48+1438_48+1441del