Canonical Allele Identifier: CA631705378

Gene: ADAMTS10

Linked Data

• dbSNP Id: rs1555735673
• gnomAD v2: 19-8645852-G-GGGGC
• gnomAD v4: 19-8580968-G-GGGGC
• MyVariant Identifiers: chr19:g.8645852_8645853insGGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580969_8580972dup , CM000681.2:g.8580969_8580972dup	GRCh38
NC_000019.9:g.8645853_8645856dup , CM000681.1:g.8645853_8645856dup	GRCh37
NC_000019.8:g.8551853_8551856dup	NCBI36
NG_011840.2:g.34731_34734dup
NG_052844.1:g.1476_1479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3233_3236dup MANE Select	ENSP00000471851.1:p.Leu1080ProfsTer?
ENST00000270328.8:c.3233_3236dup	ENSP00000270328.4:p.Leu1080ProfsTer?
ENST00000593913.5:c.*2110_*2113dup	ENSP00000469901.1:n.*2110_*2113dup
ENST00000595838.5:c.1694_1697dup	ENSP00000470501.1:p.Leu567ProfsTer?
ENST00000597188.5:c.3233_3236dup	ENSP00000471851.1:p.Leu1080ProfsTer?
NM_001282352.1:c.1694_1697dup	NP_001269281.1:p.Leu567ProfsTer?
NM_030957.3:c.3233_3236dup	NP_112219.3:p.Leu1080ProfsTer?
XM_006722917.2:c.2276_2279dup	XP_006722980.1:p.Leu761ProfsTer?
XM_011528331.1:c.3380_3383dup	XP_011526633.1:p.Leu1129ProfsTer?
XM_011528332.1:c.3380_3383dup	XP_011526634.1:p.Leu1129ProfsTer?
XM_011528333.1:c.3380_3383dup	XP_011526635.1:p.Leu1129ProfsTer?
XM_011528334.1:c.3056_3059dup	XP_011526636.1:p.Leu1021ProfsTer?
XM_011528335.1:c.1949_1952dup	XP_011526637.1:p.Leu652ProfsTer?
XM_011528336.1:c.1943_1946dup	XP_011526638.1:p.Leu650ProfsTer?
XM_006722917.3:c.2276_2279dup	XP_006722980.1:p.Leu761ProfsTer?
XM_017027338.2:c.3233_3236dup	XP_016882827.1:p.Leu1080ProfsTer?
XM_017027339.1:c.1802_1805dup	XP_016882828.1:p.Leu603ProfsTer?
XM_017027340.1:c.1796_1799dup	XP_016882829.1:p.Leu601ProfsTer?
NM_030957.4:c.3233_3236dup MANE Select	NP_112219.3:p.Leu1080ProfsTer?
NM_001282352.2:c.1694_1697dup	NP_001269281.1:p.Leu567ProfsTer?