Canonical Allele Identifier: CA129689670
Community Standard Title: NM_001379610.1(SPINK1):c.195-69_195-66dup
Gene: SPINK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147824773_147824776dup , CM000667.2:g.147824773_147824776dup GRCh38
NC_000005.9:g.147204336_147204339dup , CM000667.1:g.147204336_147204339dup GRCh37
NC_000005.8:g.147184529_147184532dup NCBI36
NG_008356.2:g.19457_19460dup

Transcript Alleles

HGVS Amino-acid Change
NM_001379610.1:c.195-69_195-66dup MANE Select NP_001366539.1:n.195-69_195-66dup
ENST00000296695.10:c.195-69_195-66dup MANE Select ENSP00000296695.5:n.195-69_195-66dup
NM_001354966.1:c.195-69_195-66dup NP_001341895.1:n.195-69_195-66dup
NM_001354966.2:c.195-69_195-66dup NP_001341895.1:n.195-69_195-66dup
NM_003122.4:c.195-69_195-66dup NP_003113.2:n.195-69_195-66dup
NM_003122.5:c.195-69_195-66dup NP_003113.2:n.195-69_195-66dup
ENST00000296695.9:c.195-69_195-66dup ENSP00000296695.5:n.195-69_195-66dup
ENST00000505722.1:n.110-69_110-66dup