Canonical Allele Identifier: CA696659852

Gene: MIPEP

Linked Data

• dbSNP Id: rs1327072693
• gnomAD v3: 13-23862314-A-AT
• gnomAD v4: 13-23862314-A-AT
• MyVariant Identifiers: chr13:g.24436453_24436454insT (hg19) ; chr13:g.23862314_23862315insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23862316dup , CM000675.2:g.23862316dup	GRCh38
NC_000013.10:g.24436455dup , CM000675.1:g.24436455dup	GRCh37
NC_000013.9:g.23334455dup	NCBI36
NG_052977.1:g.32134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.1040dup MANE Select	ENSP00000371607.3:p.Asn347LysfsTer25
ENST00000382172.3:c.1040dup	ENSP00000371607.3:p.Asn347LysfsTer25
ENST00000494139.1:n.437dup
NM_005932.3:c.1040dup	NP_005923.2:p.Asn347LysfsTer25
XM_011535097.1:c.854dup	XP_011533399.1:p.Asn285LysfsTer25
XM_011535098.1:c.1040dup	XP_011533400.1:p.Asn347LysfsTer25
XM_011535097.2:c.854dup	XP_011533399.1:p.Asn285LysfsTer25
XM_011535098.3:c.1040dup	XP_011533400.1:p.Asn347LysfsTer25
NM_005932.4:c.1040dup MANE Select	NP_005923.3:p.Asn347LysfsTer25