Linked Data
dbSNP Id:
rs1477358075
gnomAD v2:
3-15643194-G-GCTCTCTTC
gnomAD v4:
3-15601687-G-GCTCTCTTC
MyVariant Identifiers:
chr3:g.15643194_15643195insCTCTCTTC (hg19)
chr3:g.15601687_15601688insCTCTCTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601688_15601695dup , CM000665.2:g.15601688_15601695dup | GRCh38 |
| NC_000003.11:g.15643195_15643202dup , CM000665.1:g.15643195_15643202dup | GRCh37 |
| NC_000003.10:g.15618199_15618206dup | NCBI36 |
| NG_008019.1:g.4941_4948dup | |
| NG_008019.2:g.5337_5344dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427382.2:c.-17+41_-17+48dup (BTD) | ENSP00000397113.2:n.-17+41_-17+48dup | |
| ENST00000449107.7:c.-99_-92dup (BTD) | ENSP00000388212.2:n.-99_-92dup | |
| ENST00000321169.9:c.-232_-225dup (HACL1) | ENSP00000323811.5:n.-232_-225dup | |
| ENST00000417015.1:c.*89_*96dup (BTD) | ENSP00000403775.1:n.*89_*96dup | |
| ENST00000427382.1:c.-17+41_-17+48dup (BTD) | ENSP00000397113.1:n.-17+41_-17+48dup | |
| ENST00000449107.5:c.-33_-26dup (BTD) | ENSP00000388212.1:n.-33_-26dup | |
| ENST00000494021.1:n.319_326dup (BTD) | ||
| ENST00000628377.2:c.-232_-225dup (HACL1) | ENSP00000486684.1:n.-232_-225dup | |
| NM_001281723.1:c.-33_-26dup (BTD) | NP_001268652.1:n.-33_-26dup | |
| NM_001284413.1:c.-232_-225dup (HACL1) | NP_001271342.1:n.-232_-225dup | |
| NM_001284415.1:c.-232_-225dup (HACL1) | NP_001271344.1:n.-232_-225dup | |
| NM_001284416.1:c.-232_-225dup (HACL1) | NP_001271345.1:n.-232_-225dup | |
| NM_012260.3:c.-232_-225dup (HACL1) | NP_036392.2:n.-232_-225dup | |
| NR_104315.1:n.158_165dup (HACL1) | ||
| NM_001281723.2:c.-33_-26dup (BTD) | NP_001268652.1:n.-33_-26dup | |
| NM_001281723.3:c.-99_-92dup (BTD) | NP_001268652.2:n.-99_-92dup |