Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94435926_94435927delinsGT , CM000673.2:g.94435926_94435927delinsGT	GRCh38
NC_000011.9:g.94169092_94169093delinsGT , CM000673.1:g.94169092_94169093delinsGT	GRCh37
NC_000011.8:g.93808740_93808741delinsGT	NCBI36
NG_007261.1:g.62948_62949delinsAC , LRG_85:g.62948_62949delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1927-28_1927-27delinsAC MANE Select	ENSP00000325863.4:n.1927-28_1927-27delins...
ENST00000323929.7:c.1927-28_1927-27delinsAC	ENSP00000325863.3:n.1927-28_1927-27delins...
ENST00000323977.7:c.1843-28_1843-27delinsAC	ENSP00000326094.3:n.1843-28_1843-27delins...
ENST00000393241.8:c.1924-28_1924-27delinsAC	ENSP00000376933.4:n.1924-28_1924-27delins...
ENST00000407439.7:c.1936-28_1936-27delinsAC	ENSP00000385614.3:n.1936-28_1936-27delins...
NM_005590.3:c.1843-28_1843-27delinsAC	NP_005581.2:n.1843-28_1843-27delinsAC
NM_005591.3:c.1927-28_1927-27delinsAC , LRG_85t1:c.1927-28_1927-27delinsAC	NP_005582.1:n.1927-28_1927-27delinsAC
XM_005274008.2:c.1459-28_1459-27delinsAC	XP_005274065.1:n.1459-28_1459-27delinsAC
XM_006718842.2:c.1924-28_1924-27delinsAC	XP_006718905.1:n.1924-28_1924-27delinsAC
XM_011542837.1:c.1927-28_1927-27delinsAC	XP_011541139.1:n.1927-28_1927-27delinsAC
XR_947828.1:n.2223-28_2223-27delinsAC
NM_001330347.1:c.1924-28_1924-27delinsAC	NP_001317276.1:n.1924-28_1924-27delinsAC
XM_005274008.3:c.1459-28_1459-27delinsAC	XP_005274065.1:n.1459-28_1459-27delinsAC
XM_006718842.3:c.1924-28_1924-27delinsAC	XP_006718905.1:n.1924-28_1924-27delinsAC
XM_011542837.2:c.1927-28_1927-27delinsAC	XP_011541139.1:n.1927-28_1927-27delinsAC
XM_017017772.1:c.1927-28_1927-27delinsAC	XP_016873261.1:n.1927-28_1927-27delinsAC
XR_947828.2:n.2223-28_2223-27delinsAC
NM_001330347.2:c.1924-28_1924-27delinsAC	NP_001317276.1:n.1924-28_1924-27delinsAC
NM_005590.4:c.1843-28_1843-27delinsAC	NP_005581.2:n.1843-28_1843-27delinsAC
NM_005591.4:c.1927-28_1927-27delinsAC MANE Select	NP_005582.1:n.1927-28_1927-27delinsAC