Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614629_57614642delinsTCTCAGTTGCAGCC , CM000673.2:g.57614629_57614642delinsTCTCAGTTGCAGCC	GRCh38
NC_000011.9:g.57382102_57382115delinsTCTCAGTTGCAGCC , CM000673.1:g.57382102_57382115delinsTCTCAGTTGCAGCC	GRCh37
NC_000011.8:g.57138678_57138691delinsTCTCAGTTGCAGCC	NCBI36
NG_009625.1:g.22076_22089delinsTCTCAGTTGCAGCC , LRG_105:g.22076_22089delinsTCTCAGTTGCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.48_61delinsTCTCAGTTGCAGCC MANE Select	ENSP00000278407.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000528996.2:c.448_461delinsTCTCAGTTGCAGCC	ENSP00000431226.2:n.448_461delinsTCTCAGTTGCAGCC
ENST00000531605.2:c.1327_1340delinsTCTCAGTTGCAGCC	ENSP00000503752.1:n.1327_1340delinsTCTCAGTTGCAGCC
ENST00000619430.2:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000478572.2:n.48_61delinsTCTCAGTTGCAGCC
ENST00000676670.1:c.15+33_15+46delinsTCTCAGTTGCAGCC	ENSP00000504807.1:n.15+33_15+46delinsTCTCAGTTGCAGCC
ENST00000676741.1:n.2633_2646delinsTCTCAGTTGCAGCC
ENST00000677624.1:c.971_984delinsTCTCAGTTGCAGCC	ENSP00000503979.1:n.971_984delinsTCTCAGTTGCAGCC
ENST00000677625.1:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000502857.1:n.48_61delinsTCTCAGTTGCAGCC
ENST00000677856.1:n.1804_1817delinsTCTCAGTTGCAGCC
ENST00000677915.1:c.448_461delinsTCTCAGTTGCAGCC	ENSP00000503118.1:n.448_461delinsTCTCAGTTGCAGCC
ENST00000678533.1:c.1072+33_1072+46delinsTCTCAGTTGCAGCC	ENSP00000503873.1:n.1072+33_1072+46delinsTCTCAGTTGCAGCC
ENST00000678592.1:c.491_504delinsTCTCAGTTGCAGCC	ENSP00000504424.1:n.491_504delinsTCTCAGTTGCAGCC
ENST00000278407.8:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000278407.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000340687.10:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000341861.6:n.48_61delinsTCTCAGTTGCAGCC
ENST00000378323.8:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000367574.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000378324.6:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000367575.2:n.48_61delinsTCTCAGTTGCAGCC
ENST00000403558.1:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000384420.1:n.48_61delinsTCTCAGTTGCAGCC
ENST00000528996.1:c.752_765delinsTCTCAGTTGCAGCC	ENSP00000431226.1:n.752_765delinsTCTCAGTTGCAGCC
ENST00000531797.5:c.576_589delinsTCTCAGTTGCAGCC	ENSP00000432554.1:n.576_589delinsTCTCAGTTGCAGCC
NM_000062.2:c.48_61delinsTCTCAGTTGCAGCC , LRG_105t1:c.48_61delinsTCTCAGTTGCAGCC	NP_000053.2:n.48_61delinsTCTCAGTTGCAGCC
NM_001032295.1:c.48_61delinsTCTCAGTTGCAGCC	NP_001027466.1:n.48_61delinsTCTCAGTTGCAGCC
NM_000062.3:c.48_61delinsTCTCAGTTGCAGCC MANE Select	NP_000053.2:n.48_61delinsTCTCAGTTGCAGCC
NM_001032295.2:c.48_61delinsTCTCAGTTGCAGCC	NP_001027466.1:n.48_61delinsTCTCAGTTGCAGCC

HGVS	Amino-acid Change
ENST00000278407.9:c.48_61delinsTCTCAGTTGCAGCC MANE Select	ENSP00000278407.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000528996.2:c.448_461delinsTCTCAGTTGCAGCC	ENSP00000431226.2:n.448_461delinsTCTCAGTTGCAGCC
ENST00000531605.2:c.1327_1340delinsTCTCAGTTGCAGCC	ENSP00000503752.1:n.1327_1340delinsTCTCAGTTGCAGCC
ENST00000619430.2:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000478572.2:n.48_61delinsTCTCAGTTGCAGCC
ENST00000676670.1:c.15+33_15+46delinsTCTCAGTTGCAGCC	ENSP00000504807.1:n.15+33_15+46delinsTCTCAGTTGCAGCC
ENST00000676741.1:n.2633_2646delinsTCTCAGTTGCAGCC
ENST00000677624.1:c.971_984delinsTCTCAGTTGCAGCC	ENSP00000503979.1:n.971_984delinsTCTCAGTTGCAGCC
ENST00000677625.1:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000502857.1:n.48_61delinsTCTCAGTTGCAGCC
ENST00000677856.1:n.1804_1817delinsTCTCAGTTGCAGCC
ENST00000677915.1:c.448_461delinsTCTCAGTTGCAGCC	ENSP00000503118.1:n.448_461delinsTCTCAGTTGCAGCC
ENST00000678533.1:c.1072+33_1072+46delinsTCTCAGTTGCAGCC	ENSP00000503873.1:n.1072+33_1072+46delinsTCTCAGTTGCAGCC
ENST00000678592.1:c.491_504delinsTCTCAGTTGCAGCC	ENSP00000504424.1:n.491_504delinsTCTCAGTTGCAGCC
ENST00000278407.8:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000278407.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000340687.10:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000341861.6:n.48_61delinsTCTCAGTTGCAGCC
ENST00000378323.8:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000367574.4:n.48_61delinsTCTCAGTTGCAGCC
ENST00000378324.6:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000367575.2:n.48_61delinsTCTCAGTTGCAGCC
ENST00000403558.1:c.48_61delinsTCTCAGTTGCAGCC	ENSP00000384420.1:n.48_61delinsTCTCAGTTGCAGCC
ENST00000528996.1:c.752_765delinsTCTCAGTTGCAGCC	ENSP00000431226.1:n.752_765delinsTCTCAGTTGCAGCC
ENST00000531797.5:c.576_589delinsTCTCAGTTGCAGCC	ENSP00000432554.1:n.576_589delinsTCTCAGTTGCAGCC
NM_000062.2:c.48_61delinsTCTCAGTTGCAGCC , LRG_105t1:c.48_61delinsTCTCAGTTGCAGCC	NP_000053.2:n.48_61delinsTCTCAGTTGCAGCC
NM_001032295.1:c.48_61delinsTCTCAGTTGCAGCC	NP_001027466.1:n.48_61delinsTCTCAGTTGCAGCC
NM_000062.3:c.48_61delinsTCTCAGTTGCAGCC MANE Select	NP_000053.2:n.48_61delinsTCTCAGTTGCAGCC
NM_001032295.2:c.48_61delinsTCTCAGTTGCAGCC	NP_001027466.1:n.48_61delinsTCTCAGTTGCAGCC