Canonical Allele Identifier: CA2768825459
Gene: SPINK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147830593_147830615del , CM000667.2:g.147830593_147830615del GRCh38
NC_000005.9:g.147210156_147210178del , CM000667.1:g.147210156_147210178del GRCh37
NC_000005.8:g.147190349_147190371del NCBI36
NG_008356.2:g.13618_13640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.55+909_55+931del MANE Select ENSP00000296695.5:n.55+909_55+931del
ENST00000296695.9:c.55+909_55+931del ENSP00000296695.5:n.55+909_55+931del
ENST00000510027.2:c.55+909_55+931del ENSP00000427376.1:n.55+909_55+931del
NM_003122.4:c.55+909_55+931del NP_003113.2:n.55+909_55+931del
NM_001354966.1:c.55+909_55+931del NP_001341895.1:n.55+909_55+931del
NM_001354966.2:c.55+909_55+931del NP_001341895.1:n.55+909_55+931del
NM_001379610.1:c.55+909_55+931del MANE Select NP_001366539.1:n.55+909_55+931del
NM_003122.5:c.55+909_55+931del NP_003113.2:n.55+909_55+931del