Canonical Allele Identifier: CA2618976239

Gene: KRT8

Linked Data

• gnomAD v4: 12-52904731-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904731_52904732insGG , CM000674.2:g.52904731_52904732insGG	GRCh38
NC_000012.11:g.53298515_53298516insGG , CM000674.1:g.53298515_53298516insGG	GRCh37
NC_000012.10:g.51584782_51584783insGG	NCBI36
NG_008402.1:g.5353_5354insCC
NG_008402.2:g.50135_50136insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.250_251insCC MANE Select	ENSP00000509398.1:p.Ile84ThrfsTer24
ENST00000293308.11:c.250_251insCC	ENSP00000293308.6:p.Ile84ThrfsTer24
ENST00000546542.1:c.484_485insCC	ENSP00000450228.1:p.Ile162ThrfsTer?
ENST00000546583.5:n.321_322insCC
ENST00000546826.5:c.250_251insCC	ENSP00000447881.1:p.Ile84ThrfsTer24
ENST00000546897.5:c.250_251insCC	ENSP00000447402.1:p.Ile84ThrfsTer24
ENST00000548998.5:c.370_371insCC	ENSP00000447040.1:p.Ile124ThrfsTer24
ENST00000550170.5:n.313_314insCC
ENST00000552150.5:c.334_335insCC	ENSP00000449404.1:p.Ile112ThrfsTer24
ENST00000552551.5:c.250_251insCC	ENSP00000447566.1:p.Ile84ThrfsTer24
NM_001256282.1:c.334_335insCC	NP_001243211.1:p.Ile112ThrfsTer24
NM_001256293.1:c.250_251insCC	NP_001243222.1:p.Ile84ThrfsTer24
NM_002273.3:c.250_251insCC	NP_002264.1:p.Ile84ThrfsTer24
NR_045962.1:n.707_708insCC
NM_001256282.2:c.334_335insCC	NP_001243211.1:p.Ile112ThrfsTer24
NM_001256293.2:c.250_251insCC	NP_001243222.1:p.Ile84ThrfsTer24
NM_002273.4:c.250_251insCC MANE Select	NP_002264.1:p.Ile84ThrfsTer24
NR_045962.2:n.701_702insCC