Linked Data
dbSNP Id:
rs141776550
gnomAD v2:
6-110948557-G-GTATATA
gnomAD v3:
6-110627354-G-GTATATA
gnomAD v4:
6-110627354-G-GTATATA
MyVariant Identifiers:
chr6:g.110948557_110948558insTATATA (hg19)
chr6:g.110627354_110627355insTATATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.110627361_110627366dup , CM000668.2:g.110627361_110627366dup | GRCh38 |
| NC_000006.11:g.110948564_110948569dup , CM000668.1:g.110948564_110948569dup | GRCh37 |
| NC_000006.10:g.111055257_111055262dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368911.8:c.647-215_647-210dup MANE Select | ENSP00000357907.3:n.647-215_647-210dup | |
| ENST00000323817.7:c.467-215_467-210dup | ENSP00000317665.3:n.467-215_467-210dup | |
| ENST00000368911.7:c.647-215_647-210dup | ENSP00000357907.3:n.647-215_647-210dup | |
| ENST00000413605.6:c.335-215_335-210dup | ENSP00000410604.3:n.335-215_335-210dup | |
| ENST00000457688.5:c.467-215_467-210dup | ENSP00000415621.1:n.467-215_467-210dup | |
| ENST00000463016.1:c.461-215_461-210dup | ||
| NM_001300960.1:c.515-215_515-210dup | NP_001287889.1:n.515-215_515-210dup | |
| NM_001300963.1:c.467-215_467-210dup | NP_001287892.1:n.467-215_467-210dup | |
| NM_001300964.1:c.467-215_467-210dup | NP_001287893.1:n.467-215_467-210dup | |
| NM_015076.4:c.647-215_647-210dup | NP_055891.1:n.647-215_647-210dup | |
| XM_005266871.2:c.275-215_275-210dup | XP_005266928.1:n.275-215_275-210dup | |
| XM_005266872.2:c.128-215_128-210dup | XP_005266929.1:n.128-215_128-210dup | |
| XM_011535630.1:c.806-215_806-210dup | XP_011533932.1:n.806-215_806-210dup | |
| XM_011535631.1:c.686-215_686-210dup | XP_011533933.1:n.686-215_686-210dup | |
| XM_011535632.1:c.467-215_467-210dup | XP_011533934.1:n.467-215_467-210dup | |
| XM_005266871.3:c.275-215_275-210dup | XP_005266928.1:n.275-215_275-210dup | |
| XM_011535630.2:c.806-215_806-210dup | XP_011533932.1:n.806-215_806-210dup | |
| XM_011535631.2:c.686-215_686-210dup | XP_011533933.1:n.686-215_686-210dup | |
| XM_011535632.2:c.938-215_938-210dup | XP_011533934.2:n.938-215_938-210dup | |
| XM_017010587.2:c.467-215_467-210dup | XP_016866076.1:n.467-215_467-210dup | |
| XM_017010588.1:c.128-215_128-210dup | XP_016866077.1:n.128-215_128-210dup | |
| XM_024446376.1:c.938-215_938-210dup | XP_024302144.1:n.938-215_938-210dup | |
| XM_024446377.1:c.467-215_467-210dup | XP_024302145.1:n.467-215_467-210dup | |
| XM_024446378.1:c.467-215_467-210dup | XP_024302146.1:n.467-215_467-210dup | |
| XM_024446379.1:c.467-215_467-210dup | XP_024302147.1:n.467-215_467-210dup | |
| XM_024446380.1:c.467-215_467-210dup | XP_024302148.1:n.467-215_467-210dup | |
| XM_024446381.1:c.467-215_467-210dup | XP_024302149.1:n.467-215_467-210dup | |
| NM_015076.5:c.647-215_647-210dup MANE Select | NP_055891.1:n.647-215_647-210dup | |
| NM_001300960.2:c.515-215_515-210dup | NP_001287889.1:n.515-215_515-210dup | |
| NM_001300964.2:c.467-215_467-210dup | NP_001287893.1:n.467-215_467-210dup | |
| NM_001300963.2:c.467-215_467-210dup | NP_001287892.1:n.467-215_467-210dup |