Linked Data
ClinVar Variation Id:
155901
ClinVar RCV Id:
RCV000144035
dbSNP Id:
rs587777699
gnomAD v2:
19-42905973-CCCCCCGCAGCCCCCGTCTA-C
gnomAD v3:
19-42401821-CCCCCCGCAGCCCCCGTCTA-C
gnomAD v4:
19-42401821-CCCCCCGCAGCCCCCGTCTA-C
COSMIC:
COSM4612907
PubMed:
PMID:24848981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42401840_42401858del , CM000681.2:g.42401840_42401858del | GRCh38 |
| NC_000019.9:g.42905992_42906010del , CM000681.1:g.42905992_42906010del | GRCh37 |
| NC_000019.8:g.47597832_47597850del | NCBI36 |
| NG_034246.1:g.30587_30605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244289.9:c.3203_3221del (LIPE) MANE Select | ENSP00000244289.3:p.Val1068GlyfsTer? | |
| ENST00000244289.8:c.3203_3221del (LIPE) | ENSP00000244289.3:p.Val1068GlyfsTer? | |
| ENST00000597620.5:c.891_909del (LIPE) | ||
| NM_005357.3:c.3203_3221del (LIPE) | NP_005348.2:p.Val1068GlyfsTer? | |
| NR_073180.1:n.77+4616_77+4634del (LIPE-AS1) | ||
| NR_126041.1:n.97+4616_97+4634del | ||
| XM_005258937.3:c.2975_2993del (LIPE) | XP_005258994.1:p.Val992GlyfsTer? | |
| XM_005258938.3:c.2438_2456del (LIPE) | XP_005258995.1:p.Val813GlyfsTer? | |
| XM_005258939.3:c.2489_2507del (LIPE) | XP_005258996.2:p.Val830GlyfsTer? | |
| XM_005258940.3:c.2300_2318del (LIPE) | XP_005258997.1:p.Val767GlyfsTer? | |
| XM_005258941.3:c.2300_2318del (LIPE) | XP_005258998.1:p.Val767GlyfsTer? | |
| XM_006723218.2:c.2300_2318del (LIPE) | XP_006723281.1:p.Val767GlyfsTer? | |
| XM_005258938.5:c.2438_2456del (LIPE) | XP_005258995.1:p.Val813GlyfsTer? | |
| XM_006723218.3:c.2300_2318del (LIPE) | XP_006723281.1:p.Val767GlyfsTer? | |
| XM_017026810.1:c.2300_2318del (LIPE) | XP_016882299.1:p.Val767GlyfsTer? | |
| XM_024451514.1:c.2210_2228del (LIPE) | XP_024307282.1:p.Val737GlyfsTer? | |
| NM_005357.4:c.3203_3221del (LIPE) MANE Select | NP_005348.2:p.Val1068GlyfsTer? |