Canonical Allele Identifier: CA5247196

Gene: LRSAM1

Linked Data

• dbSNP Id: rs746435196
• ExAC: 9:130263262 CTCAG / C
• gnomAD v2: 9-130263262-CTCAG-C
• gnomAD v4: 9-127500983-CTCAG-C
• MyVariant Identifiers: chr9:g.130263263_130263266del (hg19) ; chr9:g.127500984_127500987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127500986_127500989del , CM000671.2:g.127500986_127500989del	GRCh38
NC_000009.11:g.130263265_130263268del , CM000671.1:g.130263265_130263268del	GRCh37
NC_000009.10:g.129303086_129303089del	NCBI36
NG_032008.1:g.54501_54504del , LRG_373:g.54501_54504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300417.11:c.1913-24_1913-21del MANE Select	ENSP00000300417.6:n.1913-24_1913-21del
ENST00000472068.2:c.*1637-24_*1637-21del	ENSP00000501555.1:n.*1637-24_*1637-21del
ENST00000483302.6:n.2578-24_2578-21del
ENST00000498513.6:c.*804-24_*804-21del	ENSP00000501637.1:n.*804-24_*804-21del
ENST00000674511.1:n.1512-24_1512-21del
ENST00000674516.1:c.*529-24_*529-21del	ENSP00000502441.1:n.*529-24_*529-21del
ENST00000674621.1:n.1861-2387_1861-2384del
ENST00000674771.1:c.*556-24_*556-21del	ENSP00000502627.1:n.*556-24_*556-21del
ENST00000674784.1:c.*973-24_*973-21del	ENSP00000501837.1:n.*973-24_*973-21del
ENST00000674970.1:c.*1687-24_*1687-21del	ENSP00000502493.1:n.*1687-24_*1687-21del
ENST00000675012.1:n.1857-24_1857-21del
ENST00000675141.1:c.1814-24_1814-21del	ENSP00000502420.1:n.1814-24_1814-21del
ENST00000675198.1:n.1793-24_1793-21del
ENST00000675213.1:c.1868-24_1868-21del	ENSP00000502218.1:n.1868-24_1868-21del
ENST00000675224.1:c.1941-24_1941-21del	ENSP00000501869.1:n.1941-24_1941-21del
ENST00000675253.1:c.*585-24_*585-21del	ENSP00000502557.1:n.*585-24_*585-21del
ENST00000675445.1:c.*1585-24_*1585-21del	ENSP00000502253.1:n.*1585-24_*1585-21del
ENST00000675448.1:c.1913-24_1913-21del	ENSP00000502167.1:n.1913-24_1913-21del
ENST00000675521.1:n.1823-24_1823-21del
ENST00000675572.1:c.1814-24_1814-21del	ENSP00000501598.1:n.1814-24_1814-21del
ENST00000675641.1:c.*655-24_*655-21del	ENSP00000501845.1:n.*655-24_*655-21del
ENST00000675657.1:c.*526-24_*526-21del	ENSP00000502002.1:n.*526-24_*526-21del
ENST00000675662.1:n.1708-24_1708-21del
ENST00000675789.1:c.1733-24_1733-21del	ENSP00000501954.1:n.1733-24_1733-21del
ENST00000675883.1:c.1832-24_1832-21del	ENSP00000501592.1:n.1832-24_1832-21del
ENST00000675945.1:c.*554-24_*554-21del	ENSP00000501835.1:n.*554-24_*554-21del
ENST00000676014.1:c.1856-24_1856-21del	ENSP00000502058.1:n.1856-24_1856-21del
ENST00000676035.1:n.1575-24_1575-21del
ENST00000676106.1:n.1950-24_1950-21del
ENST00000676137.1:n.1943-24_1943-21del
ENST00000676170.1:c.1994-24_1994-21del	ENSP00000502177.1:n.1994-24_1994-21del
ENST00000676318.1:c.*2743-24_*2743-21del	ENSP00000502300.1:n.*2743-24_*2743-21del
ENST00000676336.1:c.*526-24_*526-21del	ENSP00000502686.1:n.*526-24_*526-21del
ENST00000676349.1:c.*1601-24_*1601-21del	ENSP00000502155.1:n.*1601-24_*1601-21del
ENST00000676399.1:n.1816-24_1816-21del
ENST00000676409.1:n.1973-24_1973-21del
ENST00000300417.10:c.1913-24_1913-21del	ENSP00000300417.6:n.1913-24_1913-21del
ENST00000323301.8:c.1913-24_1913-21del	ENSP00000322937.4:n.1913-24_1913-21del
ENST00000373322.1:c.1913-24_1913-21del	ENSP00000362419.1:n.1913-24_1913-21del
ENST00000373324.8:c.1832-24_1832-21del	ENSP00000362421.4:n.1832-24_1832-21del
ENST00000472068.1:n.806-24_806-21del
ENST00000483302.5:n.1135-24_1135-21del
NM_001005373.3:c.1913-24_1913-21del	NP_001005373.1:n.1913-24_1913-21del
NM_001005374.3:c.1913-24_1913-21del	NP_001005374.1:n.1913-24_1913-21del
NM_001190723.2:c.1832-24_1832-21del	NP_001177652.1:n.1832-24_1832-21del
NM_138361.5:c.1913-24_1913-21del , LRG_373t1:c.1913-24_1913-21del	NP_612370.3:n.1913-24_1913-21del
XM_006717316.2:c.1814-24_1814-21del	XP_006717379.1:n.1814-24_1814-21del
XM_006717316.4:c.1814-24_1814-21del	XP_006717379.1:n.1814-24_1814-21del
XM_017015283.1:c.1913-24_1913-21del	XP_016870772.1:n.1913-24_1913-21del
XM_017015284.2:c.1124-24_1124-21del	XP_016870773.1:n.1124-24_1124-21del
XR_001746415.2:n.2448-24_2448-21del
XR_929874.3:n.2272-24_2272-21del
NM_001190723.3:c.1832-24_1832-21del	NP_001177652.1:n.1832-24_1832-21del
NM_001005373.4:c.1913-24_1913-21del MANE Select	NP_001005373.1:n.1913-24_1913-21del
NM_001005374.4:c.1913-24_1913-21del	NP_001005374.1:n.1913-24_1913-21del
NM_001384142.1:c.1913-24_1913-21del	NP_001371071.1:n.1913-24_1913-21del
NM_001384143.1:c.1814-24_1814-21del	NP_001371072.1:n.1814-24_1814-21del
NM_001384144.1:c.1124-24_1124-21del	NP_001371073.1:n.1124-24_1124-21del
NR_168891.1:n.2442-24_2442-21del
NR_168892.1:n.2266-24_2266-21del