Linked Data
ClinVar Variation Id:
208198
ClinVar RCV Id:
RCV000190395
dbSNP Id:
rs770077320
gnomAD v2:
12-110011231-GCAGGCCAAGACGGCTCCC-G
gnomAD v3:
12-109573426-GCAGGCCAAGACGGCTCCC-G
gnomAD v4:
12-109573426-GCAGGCCAAGACGGCTCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109573451_109573468del , CM000674.2:g.109573451_109573468del | GRCh38 |
| NC_000012.11:g.110011256_110011273del , CM000674.1:g.110011256_110011273del | GRCh37 |
| NC_000012.10:g.108495639_108495656del | NCBI36 |
| NG_007096.1:g.5054_5071del | |
| NG_007702.1:g.4757_4774del , LRG_156:g.4757_4774del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546277.6:c.-135_-118del (MVK) | ENSP00000438153.2:n.-135_-118del | |
| ENST00000545712.7:c.37_54del (MMAB) MANE Select | ENSP00000445920.1:p.Gly13_Leu18del | |
| ENST00000420167.6:c.37_54del (MMAB) | ENSP00000416136.2:p.Gly13_Leu18del | |
| ENST00000503497.7:c.37_54del (MMAB) | ENSP00000474881.1:p.Gly13_Leu18del | |
| ENST00000535044.1:n.111_128del (MVK) | ||
| ENST00000536760.1:n.40_57del (MMAB) | ||
| ENST00000537236.2:c.37_54del (MMAB) | ENSP00000483818.1:p.Gly13_Leu18del | |
| ENST00000537496.5:c.37_54del (MMAB) | ENSP00000444793.1:p.Gly13_Leu18del | |
| ENST00000539335.5:c.-126_-109del (MVK) | ENSP00000440379.1:n.-126_-109del | |
| ENST00000540016.5:c.37_54del (MMAB) | ENSP00000474582.1:p.Gly13_Leu18del | |
| ENST00000541763.6:c.37_54del (MMAB) | ENSP00000474981.1:p.Gly13_Leu18del | |
| ENST00000542390.5:n.64_81del (MMAB) | ||
| ENST00000544051.5:c.37_54del (MMAB) | ENSP00000438079.1:p.Gly13_Leu18del | |
| ENST00000545712.6:c.37_54del (MMAB) | ENSP00000445920.1:p.Gly13_Leu18del | |
| ENST00000546277.5:c.-135_-118del (MVK) | ENSP00000438153.1:n.-135_-118del | |
| NM_052845.3:c.37_54del (MMAB) | NP_443077.1:p.Gly13_Leu18del | |
| NR_038118.1:n.110_127del (MMAB) | ||
| XM_011538372.1:c.-135_-118del (MVK) | XP_011536674.1:n.-135_-118del | |
| XM_024448961.1:c.37_54del (MMAB) | XP_024304729.1:p.Gly13_Leu18del | |
| NM_052845.4:c.37_54del (MMAB) MANE Select | NP_443077.1:p.Gly13_Leu18del | |
| NR_038118.2:n.61_78del (MMAB) |