Canonical Allele Identifier: CA555415619

Gene:

Linked Data

• dbSNP Id: rs1185677053
• gnomAD v2: 4-145480922-TCC-T
• MyVariant Identifiers: chr4:g.145480923_145480924del (hg19) ; chr4:g.144559771_144559772del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559772_144559773del , CM000666.2:g.144559772_144559773del	GRCh38
NC_000004.11:g.145480924_145480925del , CM000666.1:g.145480924_145480925del	GRCh37
NC_000004.10:g.145700374_145700375del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143794_328-143793del	ENSP00000497507.1:n.328-143794_328-143793del
XR_939272.1:n.178+2212_178+2213del
XR_939273.1:n.178+2212_178+2213del
XR_939272.2:n.522+2212_522+2213del
XR_939273.2:n.522+2212_522+2213del