Canonical Allele Identifier: CA737156478

Gene:

Linked Data

• dbSNP Id: rs1312740491
• gnomAD v3: 1-56385013-ACGAGTTTAT-A
• gnomAD v4: 1-56385013-ACGAGTTTAT-A
• MyVariant Identifiers: chr1:g.56850686_56850694del (hg19) ; chr1:g.56385014_56385022del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56385015_56385023del , CM000663.2:g.56385015_56385023del	GRCh38
NC_000001.10:g.56850687_56850695del , CM000663.1:g.56850687_56850695del	GRCh37
NC_000001.9:g.56623275_56623283del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000641109.1:c.759+93864_759+93872del	ENSP00000493138.1:n.759+93864_759+93872del
ENST00000641346.1:c.366+15072_366+15080del
ENST00000641415.1:c.192+98241_192+98249del
ENST00000641494.1:c.378+98241_378+98249del
ENST00000642129.1:c.768+98241_768+98249del