Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.25227343_25227344delinsTG , CM000674.2:g.25227343_25227344delinsTG	GRCh38
NC_000012.11:g.25380277_25380278delinsTG , CM000674.1:g.25380277_25380278delinsTG	GRCh37
NC_000012.10:g.25271544_25271545delinsTG	NCBI36
NG_007524.1:g.28577_28578delinsCA
NG_007524.2:g.28660_28661delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557334.6:c.112-17433_112-17432delinsCA	ENSP00000452512.1:n.112-17433_112-17432delinsCA
ENST00000685328.1:c.180_181delinsCA	ENSP00000508921.1:p.Gln61Lys
ENST00000686877.1:c.151_152delinsCA	ENSP00000510431.1:n.151_152delinsCA
ENST00000687356.1:c.112-1571_112-1570delinsCA	ENSP00000510511.1:n.112-1571_112-1570delinsCA
ENST00000688228.1:n.654_655delinsCA
ENST00000688940.1:c.180_181delinsCA	ENSP00000509238.1:p.Gln61Lys
ENST00000690804.1:c.141_142delinsCA	ENSP00000508568.1:n.141_142delinsCA
ENST00000692768.1:c.-19_-18delinsCA	ENSP00000510254.1:n.-19_-18delinsCA
ENST00000693229.1:c.112-7_112-6delinsCA	ENSP00000509223.1:n.112-7_112-6delinsCA
ENST00000256078.10:c.180_181delinsCA MANE Plus Clinical	ENSP00000256078.5:p.Gln61Lys
ENST00000311936.8:c.180_181delinsCA MANE Select	ENSP00000308495.3:p.Gln61Lys
ENST00000256078.8:c.180_181delinsCA	ENSP00000256078.4:p.Gln61Lys
ENST00000311936.7:c.180_181delinsCA	ENSP00000308495.3:p.Gln61Lys
ENST00000557334.5:c.112-17433_112-17432delinsCA	ENSP00000452512.1:n.112-17433_112-17432delinsCA
NM_004985.4:c.180_181delinsCA	NP_004976.2:p.Gln61Lys
NM_033360.3:c.180_181delinsCA	NP_203524.1:p.Gln61Lys
XM_006719069.2:c.180_181delinsCA	XP_006719132.1:p.Gln61Lys
XM_011520653.1:c.180_181delinsCA	XP_011518955.1:p.Gln61Lys
XM_006719069.4:c.180_181delinsCA	XP_006719132.1:p.Gln61Lys
XM_011520653.3:c.180_181delinsCA	XP_011518955.1:p.Gln61Lys
NM_001369786.1:c.180_181delinsCA	NP_001356715.1:p.Gln61Lys
NM_001369787.1:c.180_181delinsCA	NP_001356716.1:p.Gln61Lys
NM_004985.5:c.180_181delinsCA MANE Select	NP_004976.2:p.Gln61Lys
NM_033360.4:c.180_181delinsCA MANE Plus Clinical	NP_203524.1:p.Gln61Lys