Canonical Allele Identifier: CA103120257

Gene:

Linked Data

• dbSNP Id: rs918768054
• gnomAD v2: 4-103420856-CTCTT-C
• gnomAD v3: 4-102499699-CTCTT-C
• gnomAD v4: 4-102499699-CTCTT-C
• MyVariant Identifiers: chr4:g.103420857_103420860del (hg19) ; chr4:g.102499700_102499703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499711_102499714del , CM000666.2:g.102499711_102499714del	GRCh38
NC_000004.11:g.103420868_103420871del , CM000666.1:g.103420868_103420871del	GRCh37
NC_000004.10:g.103639900_103639903del	NCBI36
NG_050628.1:g.3383_3386del

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1546_643+1549del	XP_011530769.1:n.643+1546_643+1549del
NR_136202.1:n.48+2736_48+2739del