Linked Data
dbSNP Id:
rs1302508525
gnomAD v2:
2-44104953-C-CG
gnomAD v3:
2-43877814-C-CG
gnomAD v4:
2-43877814-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877815dup , CM000664.2:g.43877815dup | GRCh38 |
| NC_000002.11:g.44104954dup , CM000664.1:g.44104954dup | GRCh37 |
| NC_000002.10:g.43958458dup | NCBI36 |
| NG_008884.1:g.43852dup | |
| NG_008884.2:g.50874dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1924dup MANE Select | ENSP00000272286.2:p.Ala642GlyfsTer? | |
| ENST00000272286.2:c.1924dup | ENSP00000272286.2:p.Ala642GlyfsTer? | |
| NM_022437.2:c.1924dup | NP_071882.1:p.Ala642GlyfsTer? | |
| XM_005264483.2:c.1921dup | XP_005264540.1:p.Ala641GlyfsTer? | |
| XM_011533029.1:c.1936dup | XP_011531331.1:p.Ala646GlyfsTer? | |
| XM_011533030.1:c.1933dup | XP_011531332.1:p.Ala645GlyfsTer? | |
| XM_011533031.1:c.1708dup | XP_011531333.1:p.Ala570GlyfsTer? | |
| XR_939707.1:n.2426dup | ||
| NM_001357321.1:c.1921dup | NP_001344250.1:p.Ala641GlyfsTer? | |
| XM_011533029.2:c.1936dup | XP_011531331.1:p.Ala646GlyfsTer? | |
| XM_011533030.2:c.1933dup | XP_011531332.1:p.Ala645GlyfsTer? | |
| XR_001738891.1:n.2440dup | ||
| XR_939707.2:n.2440dup | ||
| NM_022437.3:c.1924dup MANE Select | NP_071882.1:p.Ala642GlyfsTer? | |
| NM_001357321.2:c.1921dup | NP_001344250.1:p.Ala641GlyfsTer? |