Canonical Allele Identifier: CA10654099
Gene: LARGE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.33273603_33273604dup , CM000684.2:g.33273603_33273604dup GRCh38
NC_000022.10:g.33669589_33669590dup , CM000684.1:g.33669589_33669590dup GRCh37
NC_000022.9:g.31999589_31999590dup NCBI36
NG_009929.2:g.651825_651826dup

Transcript Alleles

HGVS Amino-acid Change
NM_133642.5:c.*823_*824dup MANE Select NP_598397.1:n.*823_*824dup
ENST00000397394.8:c.*823_*824dup MANE Select ENSP00000380549.2:n.*823_*824dup
NM_001362949.1:c.*823_*824dup NP_001349878.1:n.*823_*824dup
NM_001362949.2:c.*823_*824dup NP_001349878.1:n.*823_*824dup
NM_001362951.1:c.*823_*824dup NP_001349880.1:n.*823_*824dup
NM_001362951.2:c.*823_*824dup NP_001349880.1:n.*823_*824dup
NM_001362953.1:c.*823_*824dup NP_001349882.1:n.*823_*824dup
NM_001362953.2:c.*823_*824dup NP_001349882.1:n.*823_*824dup
NM_001378624.1:c.*823_*824dup NP_001365553.1:n.*823_*824dup
NM_001378625.1:c.*823_*824dup NP_001365554.1:n.*823_*824dup
NM_001378626.1:c.*823_*824dup NP_001365555.1:n.*823_*824dup
NM_001378627.1:c.*823_*824dup NP_001365556.1:n.*823_*824dup
NM_001378628.1:c.*823_*824dup NP_001365557.1:n.*823_*824dup
NM_001378629.1:c.*823_*824dup NP_001365558.1:n.*823_*824dup
NM_001378630.1:c.*823_*824dup NP_001365559.1:n.*823_*824dup
NM_001378631.1:c.*823_*824dup NP_001365560.1:n.*823_*824dup
NM_004737.4:c.*823_*824dup NP_004728.1:n.*823_*824dup
NM_004737.6:c.*823_*824dup NP_004728.1:n.*823_*824dup
NM_004737.7:c.*823_*824dup NP_004728.1:n.*823_*824dup
NM_133642.3:c.*823_*824dup NP_598397.1:n.*823_*824dup
NM_133642.4:c.*823_*824dup NP_598397.1:n.*823_*824dup
ENST00000354992.6:c.*823_*824dup ENSP00000347088.2:n.*823_*824dup
ENST00000354992.7:c.*823_*824dup ENSP00000347088.2:n.*823_*824dup
ENST00000397394.6:c.*823_*824dup ENSP00000380549.2:n.*823_*824dup
ENST00000402320.5:c.*823_*824dup ENSP00000385223.1:n.*823_*824dup
ENST00000402320.6:c.*823_*824dup ENSP00000385223.1:n.*823_*824dup
ENST00000413114.6:c.*823_*824dup ENSP00000415546.2:n.*823_*824dup
ENST00000608642.5:c.761+30625_761+30626dup ENSP00000476866.1:n.761+30625_761+30626dup
ENST00000608642.6:c.1730+30625_1730+30626dup ENSP00000476866.2:n.1730+30625_1730+30626dup
ENST00000609799.5:c.482+42481_482+42482dup ENSP00000476415.1:n.482+42481_482+42482dup
ENST00000609799.6:c.1451+42481_1451+42482dup ENSP00000476415.2:n.1451+42481_1451+42482dup
ENST00000610186.5:c.908+9598_908+9599dup ENSP00000476364.1:n.908+9598_908+9599dup
ENST00000610186.6:c.1877+9598_1877+9599dup ENSP00000476364.2:n.1877+9598_1877+9599dup
ENST00000674543.1:c.*2535_*2536dup ENSP00000501590.1:n.*2535_*2536dup
ENST00000674668.1:c.*823_*824dup ENSP00000502103.1:n.*823_*824dup
ENST00000674708.1:n.2752_2753dup
ENST00000674780.1:c.*823_*824dup ENSP00000502772.1:n.*823_*824dup
ENST00000674816.1:n.2902_2903dup
ENST00000674999.1:c.*823_*824dup ENSP00000502711.1:n.*823_*824dup
ENST00000675382.1:c.*1532_*1533dup ENSP00000501800.1:n.*1532_*1533dup
ENST00000675416.1:c.*823_*824dup ENSP00000502826.1:n.*823_*824dup
ENST00000676031.1:c.*1676_*1677dup ENSP00000501663.1:n.*1676_*1677dup
ENST00000676070.1:c.*823_*824dup ENSP00000502152.1:n.*823_*824dup
ENST00000676126.1:c.*823_*824dup ENSP00000501966.1:n.*823_*824dup
ENST00000676132.1:c.*823_*824dup ENSP00000501854.1:n.*823_*824dup
ENST00000676370.1:c.*823_*824dup ENSP00000502238.1:n.*823_*824dup
XM_005261831.2:c.*823_*824dup XP_005261888.1:n.*823_*824dup
XM_005261831.3:c.*823_*824dup XP_005261888.1:n.*823_*824dup
XM_005261832.2:c.*823_*824dup XP_005261889.1:n.*823_*824dup
XM_005261832.3:c.*823_*824dup XP_005261889.1:n.*823_*824dup
XM_011530510.1:c.*823_*824dup XP_011528812.1:n.*823_*824dup
XM_011530511.1:c.*823_*824dup XP_011528813.1:n.*823_*824dup
XM_011530512.1:c.*823_*824dup XP_011528814.1:n.*823_*824dup
XM_011530512.2:c.*823_*824dup XP_011528814.1:n.*823_*824dup
XM_011530513.1:c.*823_*824dup XP_011528815.1:n.*823_*824dup
XM_011530513.2:c.*823_*824dup XP_011528815.1:n.*823_*824dup
XM_024452302.1:c.1877+9598_1877+9599dup XP_024308070.1:n.1877+9598_1877+9599dup
XR_002958722.1:n.1924+9598_1924+9599dup