Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889296_81889297delinsCG , CM000678.2:g.81889296_81889297delinsCG	GRCh38
NC_000016.9:g.81922901_81922902delinsCG , CM000678.1:g.81922901_81922902delinsCG	GRCh37
NC_000016.8:g.80480402_80480403delinsCG	NCBI36
NG_032019.2:g.155200_155201delinsCG , LRG_376:g.155200_155201delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.867+23_867+24delinsCG	ENSP00000455533.2:n.867+23_867+24delinsCG
ENST00000697561.1:c.296+23_296+24delinsCG	ENSP00000513337.1:n.296+23_296+24delinsCG
ENST00000697562.1:c.867+23_867+24delinsCG	ENSP00000513338.1:n.867+23_867+24delinsCG
ENST00000697563.1:c.713+23_713+24delinsCG	ENSP00000513339.1:n.713+23_713+24delinsCG
ENST00000697564.1:c.750+23_750+24delinsCG	ENSP00000513340.1:n.750+23_750+24delinsCG
ENST00000697565.1:n.807+23_807+24delinsCG
ENST00000697581.1:c.861+23_861+24delinsCG	ENSP00000513346.1:n.861+23_861+24delinsCG
ENST00000697582.1:c.867+23_867+24delinsCG	ENSP00000513347.1:n.867+23_867+24delinsCG
ENST00000697583.1:c.666+23_666+24delinsCG	ENSP00000513349.1:n.666+23_666+24delinsCG
ENST00000697584.1:c.666+23_666+24delinsCG	ENSP00000513350.1:n.666+23_666+24delinsCG
ENST00000697585.1:c.666+23_666+24delinsCG	ENSP00000513351.1:n.666+23_666+24delinsCG
ENST00000697586.1:c.666+23_666+24delinsCG	ENSP00000513352.1:n.666+23_666+24delinsCG
ENST00000697587.1:c.666+23_666+24delinsCG	ENSP00000513353.1:n.666+23_666+24delinsCG
ENST00000564138.6:c.867+23_867+24delinsCG MANE Select	ENSP00000482457.1:n.867+23_867+24delinsCG
ENST00000359376.7:c.867+23_867+24delinsCG	ENSP00000352336.4:n.867+23_867+24delinsCG
ENST00000563193.1:c.175+23_175+24delinsCG
ENST00000564138.5:c.867+23_867+24delinsCG	ENSP00000482457.1:n.867+23_867+24delinsCG
ENST00000567980.5:n.1111+23_1111+24delinsCG
NM_002661.4:c.867+23_867+24delinsCG	NP_002652.2:n.867+23_867+24delinsCG
XM_011523108.1:c.981+23_981+24delinsCG	XP_011521410.1:n.981+23_981+24delinsCG
NM_002661.5:c.867+23_867+24delinsCG MANE Select	NP_002652.2:n.867+23_867+24delinsCG