Canonical Allele Identifier: CA689822500

Gene: KRT86

Linked Data

• dbSNP Id: rs1248967035
• gnomAD v4: 12-52285830-CT-C
• MyVariant Identifiers: chr12:g.52679615del (hg19) ; chr12:g.52285831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52285834del , CM000674.2:g.52285834del	GRCh38
NC_000012.11:g.52679618del , CM000674.1:g.52679618del	GRCh37
NC_000012.10:g.50965885del	NCBI36
NG_008184.1:g.10685del
NG_008086.2:g.16190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.-5+9888del MANE Select	ENSP00000444533.1:n.-5+9888del
ENST00000423955.6:c.-5+9888del	ENSP00000444533.1:n.-5+9888del
ENST00000553310.6:c.-4-16079del	ENSP00000452237.3:n.-4-16079del
XM_005268866.3:c.129+9888del	XP_005268923.1:n.129+9888del
XM_011538336.1:c.-5+9888del	XP_011536638.1:n.-5+9888del
XM_011538337.1:c.-5+9888del	XP_011536639.1:n.-5+9888del
XM_011538338.1:c.-5+9888del	XP_011536640.1:n.-5+9888del
NM_001320198.1:c.-5+9888del	NP_001307127.1:n.-5+9888del
XM_005268866.4:c.129+9888del	XP_005268923.1:n.129+9888del
XM_017019296.1:c.-103+9888del	XP_016874785.1:n.-103+9888del
NM_001320198.2:c.-5+9888del MANE Select	NP_001307127.1:n.-5+9888del