Canonical Allele Identifier: CA8922242
Community Standard Title: NM_001142730.3(KCTD1):c.2440-46_2440-40del
Gene: KCTD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.26455943_26455949del , CM000680.2:g.26455943_26455949del GRCh38
NC_000018.9:g.24035907_24035913del , CM000680.1:g.24035907_24035913del GRCh37
NC_000018.8:g.22289905_22289911del NCBI36
NG_054919.1:g.206566_206572del

Transcript Alleles

HGVS Amino-acid Change
NM_001142730.3:c.2440-46_2440-40del MANE Select NP_001136202.1:n.2440-46_2440-40del
ENST00000580059.7:c.2440-46_2440-40del MANE Select ENSP00000463041.2:n.2440-46_2440-40del
NM_001136205.2:c.616-46_616-40del NP_001129677.1:n.616-46_616-40del
NM_001142730.2:c.2440-46_2440-40del NP_001136202.1:n.2440-46_2440-40del
NM_001258221.1:c.616-46_616-40del NP_001245150.1:n.616-46_616-40del
NM_001258221.2:c.616-46_616-40del NP_001245150.1:n.616-46_616-40del
NM_001258222.1:c.640-46_640-40del NP_001245151.1:n.640-46_640-40del
NM_001258222.2:c.640-46_640-40del NP_001245151.1:n.640-46_640-40del
NM_001258222.3:c.640-46_640-40del NP_001245151.1:n.640-46_640-40del
NM_001351443.1:c.616-46_616-40del NP_001338372.1:n.616-46_616-40del
NM_198991.3:c.616-46_616-40del NP_945342.1:n.616-46_616-40del
NM_198991.4:c.616-46_616-40del NP_945342.1:n.616-46_616-40del
ENST00000317932.11:c.616-46_616-40del ENSP00000314831.7:n.616-46_616-40del
ENST00000408011.7:c.616-46_616-40del ENSP00000384367.3:n.616-46_616-40del
ENST00000417602.5:c.616-46_616-40del ENSP00000408405.2:n.616-46_616-40del
ENST00000577255.1:n.4356_4362del
ENST00000579973.5:c.616-46_616-40del ENSP00000464170.1:n.616-46_616-40del
ENST00000580059.5:c.616-46_616-40del ENSP00000463041.1:n.616-46_616-40del
ENST00000580191.5:c.640-46_640-40del ENSP00000464261.1:n.640-46_640-40del
ENST00000580638.5:c.616-46_616-40del ENSP00000462470.1:n.616-46_616-40del
ENST00000582494.1:n.378-46_378-40del
XR_002958168.1:n.2643-46_2643-40del