Linked Data
ClinVar Variation Id:
1238962
ClinVar RCV Id:
RCV001639893
dbSNP Id:
rs34252072
gnomAD v2:
6-129837167-A-ATCTT
gnomAD v3:
6-129516022-A-ATCTT
gnomAD v4:
6-129516022-A-ATCTT
MyVariant Identifiers:
chr6:g.129837167_129837168insTCTT (hg19)
chr6:g.129516022_129516023insTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129516030_129516033dup , CM000668.2:g.129516030_129516033dup | GRCh38 |
| NC_000006.11:g.129837175_129837178dup , CM000668.1:g.129837175_129837178dup | GRCh37 |
| NC_000006.10:g.129878868_129878871dup | NCBI36 |
| NG_008678.1:g.637890_637893dup , LRG_409:g.637890_637893dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.1277-160_1277-157dup | ENSP00000510626.1:n.1277-160_1277-157dup | |
| ENST00000498257.6:c.1277-160_1277-157dup | ENSP00000510533.1:n.1277-160_1277-157dup | |
| ENST00000617695.5:c.9200-160_9200-157dup | ENSP00000481744.2:n.9200-160_9200-157dup | |
| ENST00000618192.5:c.9476-160_9476-157dup | ENSP00000480802.2:n.9476-160_9476-157dup | |
| ENST00000688198.1:n.2190-160_2190-157dup | ||
| ENST00000688799.1:c.1277-160_1277-157dup | ENSP00000508458.1:n.1277-160_1277-157dup | |
| ENST00000690858.1:n.4085-160_4085-157dup | ||
| ENST00000693461.1:n.1549-160_1549-157dup | ||
| ENST00000421865.3:c.9212-160_9212-157dup MANE Select | ENSP00000400365.2:n.9212-160_9212-157dup | |
| ENST00000421865.2:c.9212-160_9212-157dup | ENSP00000400365.2:n.9212-160_9212-157dup | |
| ENST00000617695.4:c.9200-160_9200-157dup | ENSP00000481744.1:n.9200-160_9200-157dup | |
| ENST00000618192.4:c.9209-160_9209-157dup | ENSP00000480802.1:n.9209-160_9209-157dup | |
| NM_000426.3:c.9212-160_9212-157dup , LRG_409t1:c.9212-160_9212-157dup | NP_000417.2:n.9212-160_9212-157dup | |
| NM_001079823.1:c.9200-160_9200-157dup | NP_001073291.1:n.9200-160_9200-157dup | |
| XM_005266981.2:c.9476-160_9476-157dup | XP_005267038.1:n.9476-160_9476-157dup | |
| XM_005266982.2:c.9464-160_9464-157dup | XP_005267039.1:n.9464-160_9464-157dup | |
| XM_011535820.1:c.9470-160_9470-157dup | XP_011534122.1:n.9470-160_9470-157dup | |
| XR_942984.1:n.1460+6451_1460+6454dup | ||
| XR_942985.1:n.1324+6451_1324+6454dup | ||
| XM_005266981.3:c.9476-160_9476-157dup | XP_005267038.1:n.9476-160_9476-157dup | |
| XM_005266982.3:c.9464-160_9464-157dup | XP_005267039.1:n.9464-160_9464-157dup | |
| XM_011535820.2:c.9470-160_9470-157dup | XP_011534122.1:n.9470-160_9470-157dup | |
| XM_017010851.2:c.9482-160_9482-157dup | XP_016866340.1:n.9482-160_9482-157dup | |
| XM_017010852.1:c.7607-160_7607-157dup | XP_016866341.1:n.7607-160_7607-157dup | |
| XR_001743859.1:n.3900+6451_3900+6454dup | ||
| XR_001743860.1:n.1179+6451_1179+6454dup | ||
| XR_001743861.1:n.1346+6451_1346+6454dup | ||
| XR_001743863.1:n.883-13235_883-13232dup | ||
| XR_002956395.1:n.9131+6451_9131+6454dup | ||
| XR_002956396.1:n.3126+6451_3126+6454dup | ||
| NM_000426.4:c.9212-160_9212-157dup MANE Select | NP_000417.3:n.9212-160_9212-157dup | |
| NM_001079823.2:c.9200-160_9200-157dup | NP_001073291.2:n.9200-160_9200-157dup |