Canonical Allele Identifier: CA816330576

Gene: OFCC1

Linked Data

• dbSNP Id: rs55676166
• gnomAD v3: 6-10175964-TACACACACACACACACACACACACAC-T
• gnomAD v4: 6-10175964-TACACACACACACACACACACACACAC-T
• MyVariant Identifiers: chr6:g.10176198_10176223del (hg19) ; chr6:g.10175965_10175990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175981_10176006del , CM000668.2:g.10175981_10176006del	GRCh38
NC_000006.11:g.10176214_10176239del , CM000668.1:g.10176214_10176239del	GRCh37
NC_000006.10:g.10284200_10284225del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16491_164-16466del
ENST00000481704.1:c.-101-16491_-101-16466del	ENSP00000418286.1:n.-101-16491_-101-16466del
XM_017011612.1:c.-101-16491_-101-16466del	XP_016867101.1:n.-101-16491_-101-16466del
NR_170155.1:n.232-16491_232-16466del