Canonical Allele Identifier: CA735541302

Gene:

Linked Data

• dbSNP Id: rs1486176071
• gnomAD v3: 1-38158636-TCAAA-T
• gnomAD v4: 1-38158636-TCAAA-T
• MyVariant Identifiers: chr1:g.38624309_38624312del (hg19) ; chr1:g.38158637_38158640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38158640_38158643del , CM000663.2:g.38158640_38158643del	GRCh38
NC_000001.10:g.38624312_38624315del , CM000663.1:g.38624312_38624315del	GRCh37
NC_000001.9:g.38396899_38396902del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.45-3053_45-3050del
XR_947203.1:n.61+16926_61+16929del
XR_947204.1:n.45-3053_45-3050del
XR_947205.1:n.45-3053_45-3050del
XR_001737984.1:n.45-3053_45-3050del
XR_001737985.1:n.61+16926_61+16929del
XR_001737986.1:n.45-3053_45-3050del
XR_001737987.1:n.45-3053_45-3050del
XR_002958294.1:n.45-3053_45-3050del
XR_947205.2:n.45-3053_45-3050del