Linked Data
dbSNP Id:
rs1172603697
gnomAD v2:
15-75182634-C-CCTT
gnomAD v3:
15-74890293-C-CCTT
gnomAD v4:
15-74890293-C-CCTT
MyVariant Identifiers:
chr15:g.75182634_75182635insCTT (hg19)
chr15:g.74890293_74890294insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74890296_74890298dup , CM000677.2:g.74890296_74890298dup | GRCh38 |
| NC_000015.9:g.75182637_75182639dup , CM000677.1:g.75182637_75182639dup | GRCh37 |
| NC_000015.8:g.72969690_72969692dup | NCBI36 |
| NG_008921.1:g.5228_5230dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.16+207_16+209dup MANE Select | ENSP00000318318.6:n.16+207_16+209dup | |
| ENST00000323744.10:c.16+207_16+209dup | ENSP00000318192.6:n.16+207_16+209dup | |
| ENST00000352410.8:c.16+207_16+209dup | ENSP00000318318.6:n.16+207_16+209dup | |
| ENST00000535694.5:c.-7+207_-7+209dup | ENSP00000440447.1:n.-7+207_-7+209dup | |
| ENST00000561470.5:c.128+95_128+97dup | ENSP00000454267.1:n.128+95_128+97dup | |
| ENST00000562606.5:c.-19+207_-19+209dup | ENSP00000457020.1:n.-19+207_-19+209dup | |
| ENST00000562800.5:c.16+207_16+209dup | ENSP00000457619.1:n.16+207_16+209dup | |
| ENST00000563422.5:c.16+207_16+209dup | ENSP00000457885.1:n.16+207_16+209dup | |
| ENST00000563786.5:c.-133-142_-133-140dup | ENSP00000455241.1:n.-133-142_-133-140dup | |
| ENST00000564003.5:c.-7+207_-7+209dup | ENSP00000454312.1:n.-7+207_-7+209dup | |
| ENST00000564633.5:c.-16+207_-16+209dup | ENSP00000455383.1:n.-16+207_-16+209dup | |
| ENST00000565576.5:c.16+207_16+209dup | ENSP00000454619.1:n.16+207_16+209dup | |
| ENST00000566377.5:c.16+207_16+209dup | ENSP00000455405.1:n.16+207_16+209dup | |
| ENST00000567116.5:n.47+207_47+209dup | ||
| ENST00000567132.5:c.16+207_16+209dup | ENSP00000455972.1:n.16+207_16+209dup | |
| ENST00000567570.5:c.-275_-273dup | ENSP00000455477.1:n.-275_-273dup | |
| ENST00000568303.1:n.45-142_45-140dup | ||
| ENST00000568828.5:c.16+207_16+209dup | ENSP00000455065.1:n.16+207_16+209dup | |
| ENST00000568840.1:n.125+95_125+97dup | ||
| ENST00000568907.5:c.16+207_16+209dup | ENSP00000457494.1:n.16+207_16+209dup | |
| ENST00000569233.5:c.16+207_16+209dup | ENSP00000454622.1:n.16+207_16+209dup | |
| ENST00000569931.5:c.-19+207_-19+209dup | ENSP00000455161.1:n.-19+207_-19+209dup | |
| NM_001289155.1:c.16+207_16+209dup | NP_001276084.1:n.16+207_16+209dup | |
| NM_001289156.1:c.-7+207_-7+209dup | NP_001276085.1:n.-7+207_-7+209dup | |
| NM_001289157.1:c.16+207_16+209dup | NP_001276086.1:n.16+207_16+209dup | |
| NM_002435.2:c.16+207_16+209dup | NP_002426.1:n.16+207_16+209dup | |
| XM_011521592.1:c.4+95_4+97dup | XP_011519894.1:n.4+95_4+97dup | |
| XM_011521593.1:c.-133-142_-133-140dup | XP_011519895.1:n.-133-142_-133-140dup | |
| NM_001330372.1:c.-133-142_-133-140dup | NP_001317301.1:n.-133-142_-133-140dup | |
| XM_017022208.1:c.-133-142_-133-140dup | XP_016877697.1:n.-133-142_-133-140dup | |
| XM_017022209.2:c.-7+207_-7+209dup | XP_016877698.1:n.-7+207_-7+209dup | |
| NM_002435.3:c.16+207_16+209dup MANE Select | NP_002426.1:n.16+207_16+209dup | |
| NM_001289155.2:c.16+207_16+209dup | NP_001276084.1:n.16+207_16+209dup | |
| NM_001289156.2:c.-7+207_-7+209dup | NP_001276085.1:n.-7+207_-7+209dup | |
| NM_001289157.2:c.16+207_16+209dup | NP_001276086.1:n.16+207_16+209dup | |
| NM_001330372.2:c.-133-142_-133-140dup | NP_001317301.1:n.-133-142_-133-140dup |