Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800044_174800047delinsCAGG , CM000664.2:g.174800044_174800047delinsCAGG	GRCh38
NC_000002.11:g.175664772_175664775delinsCAGG , CM000664.1:g.175664772_175664775delinsCAGG	GRCh37
NC_000002.10:g.175373018_175373021delinsCAGG	NCBI36
NG_012642.1:g.210396_210399delinsCCTG
NG_012642.2:g.210396_210399delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000295497.12:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000409900.9:c.69_72delinsCCTG MANE Select	ENSP00000386741.4:n.69_72delinsCCTG
ENST00000413882.6:c.69_72delinsCCTG	ENSP00000410496.2:n.69_72delinsCCTG
ENST00000443238.6:c.69_72delinsCCTG	ENSP00000409798.2:n.69_72delinsCCTG
ENST00000488080.6:n.1092_1095delinsCCTG
ENST00000650731.1:c.69_72delinsCCTG	ENSP00000499146.1:n.69_72delinsCCTG
ENST00000650938.1:c.835_838delinsCCTG
ENST00000651246.1:c.69_72delinsCCTG	ENSP00000498484.1:n.69_72delinsCCTG
ENST00000651501.1:c.896_899delinsCCTG	ENSP00000498894.1:n.896_899delinsCCTG
ENST00000651717.1:c.725_728delinsCCTG	ENSP00000499124.1:n.725_728delinsCCTG
ENST00000652036.1:c.69_72delinsCCTG	ENSP00000499139.1:n.69_72delinsCCTG
ENST00000295497.11:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000409156.7:c.69_72delinsCCTG	ENSP00000386470.3:n.69_72delinsCCTG
ENST00000409597.5:c.69_72delinsCCTG	ENSP00000386469.1:n.69_72delinsCCTG
ENST00000409900.7:c.69_72delinsCCTG	ENSP00000386741.3:n.69_72delinsCCTG
ENST00000488080.5:n.1300_1303delinsCCTG
ENST00000492964.1:n.592_595delinsCCTG
NM_001025201.3:c.69_72delinsCCTG	NP_001020372.2:n.69_72delinsCCTG
NM_001206602.1:c.69_72delinsCCTG	NP_001193531.1:n.69_72delinsCCTG
NM_001822.5:c.69_72delinsCCTG	NP_001813.1:n.69_72delinsCCTG
NR_038133.1:n.1315_1318delinsCCTG
NM_001025201.4:c.69_72delinsCCTG	NP_001020372.2:n.69_72delinsCCTG
NM_001206602.2:c.69_72delinsCCTG	NP_001193531.1:n.69_72delinsCCTG
NM_001371513.1:c.69_72delinsCCTG	NP_001358442.1:n.69_72delinsCCTG
NM_001371514.1:c.69_72delinsCCTG	NP_001358443.1:n.69_72delinsCCTG
NM_001822.7:c.69_72delinsCCTG MANE Select	NP_001813.1:n.69_72delinsCCTG
NR_038133.2:n.1317_1320delinsCCTG

HGVS	Amino-acid Change
ENST00000295497.13:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000295497.12:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000409900.9:c.69_72delinsCCTG MANE Select	ENSP00000386741.4:n.69_72delinsCCTG
ENST00000413882.6:c.69_72delinsCCTG	ENSP00000410496.2:n.69_72delinsCCTG
ENST00000443238.6:c.69_72delinsCCTG	ENSP00000409798.2:n.69_72delinsCCTG
ENST00000488080.6:n.1092_1095delinsCCTG
ENST00000650731.1:c.69_72delinsCCTG	ENSP00000499146.1:n.69_72delinsCCTG
ENST00000650938.1:c.835_838delinsCCTG
ENST00000651246.1:c.69_72delinsCCTG	ENSP00000498484.1:n.69_72delinsCCTG
ENST00000651501.1:c.896_899delinsCCTG	ENSP00000498894.1:n.896_899delinsCCTG
ENST00000651717.1:c.725_728delinsCCTG	ENSP00000499124.1:n.725_728delinsCCTG
ENST00000652036.1:c.69_72delinsCCTG	ENSP00000499139.1:n.69_72delinsCCTG
ENST00000295497.11:c.69_72delinsCCTG	ENSP00000295497.7:n.69_72delinsCCTG
ENST00000409156.7:c.69_72delinsCCTG	ENSP00000386470.3:n.69_72delinsCCTG
ENST00000409597.5:c.69_72delinsCCTG	ENSP00000386469.1:n.69_72delinsCCTG
ENST00000409900.7:c.69_72delinsCCTG	ENSP00000386741.3:n.69_72delinsCCTG
ENST00000488080.5:n.1300_1303delinsCCTG
ENST00000492964.1:n.592_595delinsCCTG
NM_001025201.3:c.69_72delinsCCTG	NP_001020372.2:n.69_72delinsCCTG
NM_001206602.1:c.69_72delinsCCTG	NP_001193531.1:n.69_72delinsCCTG
NM_001822.5:c.69_72delinsCCTG	NP_001813.1:n.69_72delinsCCTG
NR_038133.1:n.1315_1318delinsCCTG
NM_001025201.4:c.69_72delinsCCTG	NP_001020372.2:n.69_72delinsCCTG
NM_001206602.2:c.69_72delinsCCTG	NP_001193531.1:n.69_72delinsCCTG
NM_001371513.1:c.69_72delinsCCTG	NP_001358442.1:n.69_72delinsCCTG
NM_001371514.1:c.69_72delinsCCTG	NP_001358443.1:n.69_72delinsCCTG
NM_001822.7:c.69_72delinsCCTG MANE Select	NP_001813.1:n.69_72delinsCCTG
NR_038133.2:n.1317_1320delinsCCTG