Canonical Allele Identifier: CA605239794

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1565750531
• gnomAD v2: 12-52699965-C-CCTG
• gnomAD v4: 12-52306181-C-CCTG
• MyVariant Identifiers: chr12:g.52699965_52699966insCTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306183_52306185dup , CM000674.2:g.52306183_52306185dup	GRCh38
NC_000012.11:g.52699967_52699969dup , CM000674.1:g.52699967_52699969dup	GRCh37
NC_000012.10:g.50986234_50986236dup	NCBI36
NG_008086.1:g.9319_9321dup
NG_008086.2:g.36539_36541dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000423955.7:c.1150_1152dup (KRT86) MANE Select	ENSP00000444533.1:p.Cys384_Leu385insCys
ENST00000293525.5:c.1150_1152dup (KRT86)	ENSP00000293525.5:p.Cys384_Leu385insCys
ENST00000423955.6:c.1150_1152dup (KRT86)	ENSP00000444533.1:p.Cys384_Leu385insCys
NM_002284.3:c.1150_1152dup (KRT86)	NP_002275.1:p.Cys384_Leu385insCys
XM_005268866.3:c.1381_1383dup (KRT86)	XP_005268923.1:p.Cys461_Leu462insCys
XM_011538334.1:c.-212+2027_-212+2029dup (KRT81)	XP_011536636.1:n.-212+2027_-212+2029dup
XM_011538336.1:c.1150_1152dup (KRT86)	XP_011536638.1:p.Cys384_Leu385insCys
XM_011538337.1:c.1150_1152dup (KRT86)	XP_011536639.1:p.Cys384_Leu385insCys
XM_011538338.1:c.1150_1152dup (KRT86)	XP_011536640.1:p.Cys384_Leu385insCys
NM_001320198.1:c.1150_1152dup (KRT86)	NP_001307127.1:p.Cys384_Leu385insCys
XM_005268866.4:c.1381_1383dup (KRT86)	XP_005268923.1:p.Cys461_Leu462insCys
XM_017019296.1:c.1150_1152dup (KRT86)	XP_016874785.1:p.Cys384_Leu385insCys
NM_001320198.2:c.1150_1152dup (KRT86) MANE Select	NP_001307127.1:p.Cys384_Leu385insCys