Canonical Allele Identifier: CA735541264

Gene:

Linked Data

• dbSNP Id: rs1223398977
• gnomAD v3: 1-38158561-GAATGGACACA-G
• gnomAD v4: 1-38158561-GAATGGACACA-G
• MyVariant Identifiers: chr1:g.38624234_38624243del (hg19) ; chr1:g.38158562_38158571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158564_38158573del , CM000663.2:g.38158564_38158573del	GRCh38
NC_000001.10:g.38624236_38624245del , CM000663.1:g.38624236_38624245del	GRCh37
NC_000001.9:g.38396823_38396832del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3129_45-3120del
XR_947203.1:n.61+16850_61+16859del
XR_947204.1:n.45-3129_45-3120del
XR_947205.1:n.45-3129_45-3120del
XR_001737984.1:n.45-3129_45-3120del
XR_001737985.1:n.61+16850_61+16859del
XR_001737986.1:n.45-3129_45-3120del
XR_001737987.1:n.45-3129_45-3120del
XR_002958294.1:n.45-3129_45-3120del
XR_947205.2:n.45-3129_45-3120del