Canonical Allele Identifier: CA693369605

Gene: KERA

Linked Data

• dbSNP Id: rs1365191022
• gnomAD v4: 12-91055344-A-ATTTAATGAAAATAAAGATACT
• MyVariant Identifiers: chr12:g.91449121_91449122insTTTAATGAAAATAAAGATACT (hg19) ; chr12:g.91055344_91055345insTTTAATGAAAATAAAGATACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91055352_91055353insAAATAAAGATACTTTTAATGA , CM000674.2:g.91055352_91055353insAAATAAAGATACTTTTAATGA	GRCh38
NC_000012.11:g.91449129_91449130insAAATAAAGATACTTTTAATGA , CM000674.1:g.91449129_91449130insAAATAAAGATACTTTTAATGA	GRCh37
NC_000012.10:g.89973260_89973261insAAATAAAGATACTTTTAATGA	NCBI36
NG_021223.1:g.8010_8011insAGTATCTTTATTTTCATTAAA , LRG_538:g.8010_8011insAGTATCTTTATTTTCATTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266719.4:c.886+51_886+52insAGTATCTTTATTTTCATTAAA MANE Select	ENSP00000266719.3:n.886+51_886+52insAGTATCTTTATTTTCATTAAA
ENST00000266719.3:c.886+51_886+52insAGTATCTTTATTTTCATTAAA	ENSP00000266719.3:n.886+51_886+52insAGTATCTTTATTTTCATTAAA
NM_007035.3:c.886+51_886+52insAGTATCTTTATTTTCATTAAA , LRG_538t1:c.886+51_886+52insAGTATCTTTATTTTCATTAAA	NP_008966.1:n.886+51_886+52insAGTATCTTTATTTTCATTAAA
XM_011537781.1:c.886+51_886+52insAGTATCTTTATTTTCATTAAA	XP_011536083.1:n.886+51_886+52insAGTATCTTTATTTTCATTAAA
NM_007035.4:c.886+51_886+52insAGTATCTTTATTTTCATTAAA MANE Select	NP_008966.1:n.886+51_886+52insAGTATCTTTATTTTCATTAAA