Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986838_16986839del , CM000663.2:g.16986838_16986839del	GRCh38
NC_000001.10:g.17313333_17313334del , CM000663.1:g.17313333_17313334del	GRCh37
NC_000001.9:g.17185920_17185921del	NCBI36
NG_009054.1:g.30093_30094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3204_3205del MANE Select	ENSP00000327214.8:p.Pro1070LeufsTer?
ENST00000326735.12:c.3204_3205del	ENSP00000327214.8:p.Pro1070LeufsTer?
ENST00000341676.9:c.3072_3073del	ENSP00000341115.5:p.Pro1026LeufsTer9
ENST00000452699.5:c.3189_3190del	ENSP00000413307.1:p.Pro1065LeufsTer?
ENST00000466561.1:n.1078_1079del
ENST00000502418.1:c.792_793del	ENSP00000423065.1:p.Pro266LeufsTer9
NM_001141973.2:c.3189_3190del	NP_001135445.1:p.Pro1065LeufsTer?
NM_001141974.2:c.3072_3073del	NP_001135446.1:p.Pro1026LeufsTer9
NM_022089.3:c.3204_3205del	NP_071372.1:p.Pro1070LeufsTer?
XM_005245809.1:c.3204_3205del	XP_005245866.1:p.Pro1070LeufsTer9
XM_005245810.1:c.3201_3202del	XP_005245867.1:p.Pro1069LeufsTer9
XM_005245811.1:c.3189_3190del	XP_005245868.1:p.Pro1065LeufsTer9
XM_005245812.1:c.3177_3178del	XP_005245869.1:p.Pro1061LeufsTer9
XM_005245813.1:c.3144_3145del	XP_005245870.1:p.Pro1050LeufsTer9
XM_005245815.1:c.3087_3088del	XP_005245872.1:p.Pro1031LeufsTer9
XM_006710512.1:c.3186_3187del	XP_006710575.1:p.Pro1064LeufsTer9
XM_006710513.1:c.3162_3163del	XP_006710576.1:p.Pro1056LeufsTer9
XM_011541128.1:c.3189_3190del	XP_011539430.1:p.Pro1065LeufsTer9
XM_011541129.1:c.2997_2998del	XP_011539431.1:p.Pro1001LeufsTer9
XM_017000844.1:c.3189_3190del	XP_016856333.1:p.Pro1065LeufsTer?
XM_017000845.1:c.3186_3187del	XP_016856334.1:p.Pro1064LeufsTer?
XM_017000846.1:c.3162_3163del	XP_016856335.1:p.Pro1056LeufsTer?
XM_017000847.1:c.3159_3160del	XP_016856336.1:p.Pro1055LeufsTer?
XM_017000848.1:c.3087_3088del	XP_016856337.1:p.Pro1031LeufsTer?
XM_017000849.1:c.3072_3073del	XP_016856338.1:p.Pro1026LeufsTer?
XM_017000850.1:c.2997_2998del	XP_016856339.1:p.Pro1001LeufsTer?
NM_022089.4:c.3204_3205del MANE Select	NP_071372.1:p.Pro1070LeufsTer?
NM_001141973.3:c.3189_3190del	NP_001135445.1:p.Pro1065LeufsTer?
NM_001141974.3:c.3072_3073del	NP_001135446.1:p.Pro1026LeufsTer9