Canonical Allele Identifier: CA15608171
Gene: ADAMTSL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.18761101A>C , CM000671.2:g.18761101A>C GRCh38
NC_000009.11:g.18761099A>C , CM000671.1:g.18761099A>C GRCh37
NC_000009.10:g.18751099A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380548.9:c.2217+7593A>C MANE Select ENSP00000369921.4:n.2217+7593A>C
ENST00000680146.1:c.2361+7593A>C ENSP00000505591.1:n.2361+7593A>C
ENST00000380548.8:c.2217+7593A>C ENSP00000369921.4:n.2217+7593A>C
ENST00000380559.7:n.749+7593A>C
NM_001040272.5:c.2217+7593A>C NP_001035362.3:n.2217+7593A>C
XM_011518063.1:c.2415+7593A>C XP_011516365.1:n.2415+7593A>C
XM_011518064.1:c.2370+7593A>C XP_011516366.1:n.2370+7593A>C
XM_011518065.1:c.2337+7593A>C XP_011516367.1:n.2337+7593A>C
XM_011518066.1:c.1767+7593A>C XP_011516368.1:n.1767+7593A>C
XM_011518067.1:c.1113+7593A>C XP_011516369.1:n.1113+7593A>C
XM_011518068.1:c.813+7593A>C XP_011516370.1:n.813+7593A>C
XM_011518069.1:c.813+7593A>C XP_011516371.1:n.813+7593A>C
XM_011518070.1:c.813+7593A>C XP_011516372.1:n.813+7593A>C
XM_011518063.2:c.2415+7593A>C XP_011516365.1:n.2415+7593A>C
XM_011518064.3:c.2370+7593A>C XP_011516366.1:n.2370+7593A>C
XM_011518068.2:c.813+7593A>C XP_011516370.1:n.813+7593A>C
XM_011518070.2:c.813+7593A>C XP_011516372.1:n.813+7593A>C
XM_017015310.1:c.2373+7593A>C XP_016870799.1:n.2373+7593A>C
XM_017015311.1:c.2364+7593A>C XP_016870800.1:n.2364+7593A>C
XM_017015312.2:c.2319+7593A>C XP_016870801.1:n.2319+7593A>C
XM_017015313.1:c.1767+7593A>C XP_016870802.1:n.1767+7593A>C
XM_017015314.1:c.2415+7593A>C XP_016870803.1:n.2415+7593A>C
NM_001040272.6:c.2217+7593A>C MANE Select NP_001035362.3:n.2217+7593A>C
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