Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572166_132572167delinsCA , CM000670.2:g.132572166_132572167delinsCA	GRCh38
NC_000008.10:g.133584414_133584415delinsCA , CM000670.1:g.133584414_133584415delinsCA	GRCh37
NC_000008.9:g.133653596_133653597delinsCA	NCBI36
NG_033068.1:g.108449_108450delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.139_140delinsTG MANE Select	ENSP00000484634.1:n.139_140delinsTG
ENST00000519595.5:c.139_140delinsTG	ENSP00000429791.1:n.139_140delinsTG
ENST00000618342.1:c.1540_1541delinsTG	ENSP00000484802.1:n.1540_1541delinsTG
ENST00000620350.4:c.139_140delinsTG	ENSP00000484634.1:n.139_140delinsTG
NM_012472.4:c.139_140delinsTG	NP_036604.2:n.139_140delinsTG
NR_073525.1:n.1764_1765delinsTG
XM_006716538.2:c.139_140delinsTG	XP_006716601.2:n.139_140delinsTG
XM_011516950.1:c.139_140delinsTG	XP_011515252.1:n.139_140delinsTG
XM_011516952.1:c.139_140delinsTG	XP_011515254.1:n.139_140delinsTG
XM_011516953.1:c.139_140delinsTG	XP_011515255.1:n.139_140delinsTG
XM_011516954.1:c.139_140delinsTG	XP_011515256.1:n.139_140delinsTG
XR_428377.2:n.1792_1793delinsTG
NM_001321961.1:c.139_140delinsTG	NP_001308890.1:n.139_140delinsTG
NM_001321962.1:c.139_140delinsTG	NP_001308891.1:n.139_140delinsTG
NM_001321963.1:c.139_140delinsTG	NP_001308892.1:n.139_140delinsTG
NM_001321964.1:c.139_140delinsTG	NP_001308893.1:n.139_140delinsTG
NM_001321965.1:c.139_140delinsTG	NP_001308894.1:n.139_140delinsTG
NM_001321966.1:c.139_140delinsTG	NP_001308895.1:n.139_140delinsTG
NM_012472.5:c.139_140delinsTG	NP_036604.2:n.139_140delinsTG
NR_073525.2:n.1764_1765delinsTG
NR_135905.1:n.1753_1754delinsTG
NR_135906.1:n.1194_1195delinsTG
NR_135907.1:n.1440_1441delinsTG
NR_135908.1:n.1134_1135delinsTG
NR_135909.1:n.1558_1559delinsTG
NR_135910.1:n.1865_1866delinsTG
NR_135911.1:n.1944_1945delinsTG
NR_135912.1:n.2503_2504delinsTG
NR_135913.1:n.2190_2191delinsTG
XM_006716538.3:c.139_140delinsTG	XP_006716601.2:n.139_140delinsTG
XM_011516950.2:c.139_140delinsTG	XP_011515252.1:n.139_140delinsTG
XM_017013296.1:c.139_140delinsTG	XP_016868785.1:n.139_140delinsTG
XM_017013297.1:c.139_140delinsTG	XP_016868786.1:n.139_140delinsTG
XM_017013298.1:c.139_140delinsTG	XP_016868787.1:n.139_140delinsTG
NM_012472.6:c.139_140delinsTG MANE Select	NP_036604.2:n.139_140delinsTG
NM_001321961.2:c.139_140delinsTG	NP_001308890.1:n.139_140delinsTG
NM_001321962.2:c.139_140delinsTG	NP_001308891.1:n.139_140delinsTG
NM_001321963.2:c.139_140delinsTG	NP_001308892.1:n.139_140delinsTG
NM_001321964.2:c.139_140delinsTG	NP_001308893.1:n.139_140delinsTG
NM_001321965.2:c.139_140delinsTG	NP_001308894.1:n.139_140delinsTG
NM_001321966.2:c.139_140delinsTG	NP_001308895.1:n.139_140delinsTG
NR_073525.3:n.1692_1693delinsTG
NR_135905.2:n.1681_1682delinsTG
NR_135906.2:n.1122_1123delinsTG
NR_135907.2:n.1368_1369delinsTG
NR_135908.2:n.1062_1063delinsTG
NR_135909.2:n.1578_1579delinsTG
NR_135910.2:n.1928_1929delinsTG
NR_135911.2:n.2048_2049delinsTG
NR_135912.2:n.2607_2608delinsTG
NR_135913.2:n.2294_2295delinsTG

HGVS	Amino-acid Change
ENST00000620350.5:c.139_140delinsTG MANE Select	ENSP00000484634.1:n.139_140delinsTG
ENST00000519595.5:c.139_140delinsTG	ENSP00000429791.1:n.139_140delinsTG
ENST00000618342.1:c.1540_1541delinsTG	ENSP00000484802.1:n.1540_1541delinsTG
ENST00000620350.4:c.139_140delinsTG	ENSP00000484634.1:n.139_140delinsTG
NM_012472.4:c.139_140delinsTG	NP_036604.2:n.139_140delinsTG
NR_073525.1:n.1764_1765delinsTG
XM_006716538.2:c.139_140delinsTG	XP_006716601.2:n.139_140delinsTG
XM_011516950.1:c.139_140delinsTG	XP_011515252.1:n.139_140delinsTG
XM_011516952.1:c.139_140delinsTG	XP_011515254.1:n.139_140delinsTG
XM_011516953.1:c.139_140delinsTG	XP_011515255.1:n.139_140delinsTG
XM_011516954.1:c.139_140delinsTG	XP_011515256.1:n.139_140delinsTG
XR_428377.2:n.1792_1793delinsTG
NM_001321961.1:c.139_140delinsTG	NP_001308890.1:n.139_140delinsTG
NM_001321962.1:c.139_140delinsTG	NP_001308891.1:n.139_140delinsTG
NM_001321963.1:c.139_140delinsTG	NP_001308892.1:n.139_140delinsTG
NM_001321964.1:c.139_140delinsTG	NP_001308893.1:n.139_140delinsTG
NM_001321965.1:c.139_140delinsTG	NP_001308894.1:n.139_140delinsTG
NM_001321966.1:c.139_140delinsTG	NP_001308895.1:n.139_140delinsTG
NM_012472.5:c.139_140delinsTG	NP_036604.2:n.139_140delinsTG
NR_073525.2:n.1764_1765delinsTG
NR_135905.1:n.1753_1754delinsTG
NR_135906.1:n.1194_1195delinsTG
NR_135907.1:n.1440_1441delinsTG
NR_135908.1:n.1134_1135delinsTG
NR_135909.1:n.1558_1559delinsTG
NR_135910.1:n.1865_1866delinsTG
NR_135911.1:n.1944_1945delinsTG
NR_135912.1:n.2503_2504delinsTG
NR_135913.1:n.2190_2191delinsTG
XM_006716538.3:c.139_140delinsTG	XP_006716601.2:n.139_140delinsTG
XM_011516950.2:c.139_140delinsTG	XP_011515252.1:n.139_140delinsTG
XM_017013296.1:c.139_140delinsTG	XP_016868785.1:n.139_140delinsTG
XM_017013297.1:c.139_140delinsTG	XP_016868786.1:n.139_140delinsTG
XM_017013298.1:c.139_140delinsTG	XP_016868787.1:n.139_140delinsTG
NM_012472.6:c.139_140delinsTG MANE Select	NP_036604.2:n.139_140delinsTG
NM_001321961.2:c.139_140delinsTG	NP_001308890.1:n.139_140delinsTG
NM_001321962.2:c.139_140delinsTG	NP_001308891.1:n.139_140delinsTG
NM_001321963.2:c.139_140delinsTG	NP_001308892.1:n.139_140delinsTG
NM_001321964.2:c.139_140delinsTG	NP_001308893.1:n.139_140delinsTG
NM_001321965.2:c.139_140delinsTG	NP_001308894.1:n.139_140delinsTG
NM_001321966.2:c.139_140delinsTG	NP_001308895.1:n.139_140delinsTG
NR_073525.3:n.1692_1693delinsTG
NR_135905.2:n.1681_1682delinsTG
NR_135906.2:n.1122_1123delinsTG
NR_135907.2:n.1368_1369delinsTG
NR_135908.2:n.1062_1063delinsTG
NR_135909.2:n.1578_1579delinsTG
NR_135910.2:n.1928_1929delinsTG
NR_135911.2:n.2048_2049delinsTG
NR_135912.2:n.2607_2608delinsTG
NR_135913.2:n.2294_2295delinsTG