Canonical Allele Identifier: CA134766678

Gene: OFCC1

Linked Data

• dbSNP Id: rs55676166
• gnomAD v2: 6-10176197-TACACACACACACACACACACAC-T
• gnomAD v3: 6-10175964-TACACACACACACACACACACAC-T
• gnomAD v4: 6-10175964-TACACACACACACACACACACAC-T
• MyVariant Identifiers: chr6:g.10176198_10176219del (hg19) ; chr6:g.10175965_10175986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175985_10176006del , CM000668.2:g.10175985_10176006del	GRCh38
NC_000006.11:g.10176218_10176239del , CM000668.1:g.10176218_10176239del	GRCh37
NC_000006.10:g.10284204_10284225del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16487_164-16466del
ENST00000481704.1:c.-101-16487_-101-16466del	ENSP00000418286.1:n.-101-16487_-101-16466del
XM_017011612.1:c.-101-16487_-101-16466del	XP_016867101.1:n.-101-16487_-101-16466del
NR_170155.1:n.232-16487_232-16466del