Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572220_132572221delinsAT , CM000670.2:g.132572220_132572221delinsAT	GRCh38
NC_000008.10:g.133584468_133584469delinsAT , CM000670.1:g.133584468_133584469delinsAT	GRCh37
NC_000008.9:g.133653650_133653651delinsAT	NCBI36
NG_033068.1:g.108395_108396delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.85_86delinsAT MANE Select	ENSP00000484634.1:n.85_86delinsAT
ENST00000250173.5:c.350_351delinsAT	ENSP00000250173.2:n.350_351delinsAT
ENST00000518642.5:c.350_351delinsAT	ENSP00000428610.1:n.350_351delinsAT
ENST00000519595.5:c.85_86delinsAT	ENSP00000429791.1:n.85_86delinsAT
ENST00000522789.5:c.706_707delinsAT	ENSP00000428015.1:n.706_707delinsAT
ENST00000618342.1:c.1486_1487delinsAT	ENSP00000484802.1:n.1486_1487delinsAT
ENST00000620350.4:c.85_86delinsAT	ENSP00000484634.1:n.85_86delinsAT
NM_012472.4:c.85_86delinsAT	NP_036604.2:n.85_86delinsAT
NR_073525.1:n.1710_1711delinsAT
XM_006716538.2:c.85_86delinsAT	XP_006716601.2:n.85_86delinsAT
XM_011516950.1:c.85_86delinsAT	XP_011515252.1:n.85_86delinsAT
XM_011516952.1:c.85_86delinsAT	XP_011515254.1:n.85_86delinsAT
XM_011516953.1:c.85_86delinsAT	XP_011515255.1:n.85_86delinsAT
XM_011516954.1:c.85_86delinsAT	XP_011515256.1:n.85_86delinsAT
XR_428377.2:n.1738_1739delinsAT
NM_001321961.1:c.85_86delinsAT	NP_001308890.1:n.85_86delinsAT
NM_001321962.1:c.85_86delinsAT	NP_001308891.1:n.85_86delinsAT
NM_001321963.1:c.85_86delinsAT	NP_001308892.1:n.85_86delinsAT
NM_001321964.1:c.85_86delinsAT	NP_001308893.1:n.85_86delinsAT
NM_001321965.1:c.85_86delinsAT	NP_001308894.1:n.85_86delinsAT
NM_001321966.1:c.85_86delinsAT	NP_001308895.1:n.85_86delinsAT
NM_012472.5:c.85_86delinsAT	NP_036604.2:n.85_86delinsAT
NR_073525.2:n.1710_1711delinsAT
NR_135905.1:n.1699_1700delinsAT
NR_135906.1:n.1140_1141delinsAT
NR_135907.1:n.1386_1387delinsAT
NR_135908.1:n.1080_1081delinsAT
NR_135909.1:n.1504_1505delinsAT
NR_135910.1:n.1811_1812delinsAT
NR_135911.1:n.1890_1891delinsAT
NR_135912.1:n.2449_2450delinsAT
NR_135913.1:n.2136_2137delinsAT
XM_006716538.3:c.85_86delinsAT	XP_006716601.2:n.85_86delinsAT
XM_011516950.2:c.85_86delinsAT	XP_011515252.1:n.85_86delinsAT
XM_017013296.1:c.85_86delinsAT	XP_016868785.1:n.85_86delinsAT
XM_017013297.1:c.85_86delinsAT	XP_016868786.1:n.85_86delinsAT
XM_017013298.1:c.85_86delinsAT	XP_016868787.1:n.85_86delinsAT
NM_012472.6:c.85_86delinsAT MANE Select	NP_036604.2:n.85_86delinsAT
NM_001321961.2:c.85_86delinsAT	NP_001308890.1:n.85_86delinsAT
NM_001321962.2:c.85_86delinsAT	NP_001308891.1:n.85_86delinsAT
NM_001321963.2:c.85_86delinsAT	NP_001308892.1:n.85_86delinsAT
NM_001321964.2:c.85_86delinsAT	NP_001308893.1:n.85_86delinsAT
NM_001321965.2:c.85_86delinsAT	NP_001308894.1:n.85_86delinsAT
NM_001321966.2:c.85_86delinsAT	NP_001308895.1:n.85_86delinsAT
NR_073525.3:n.1638_1639delinsAT
NR_135905.2:n.1627_1628delinsAT
NR_135906.2:n.1068_1069delinsAT
NR_135907.2:n.1314_1315delinsAT
NR_135908.2:n.1008_1009delinsAT
NR_135909.2:n.1524_1525delinsAT
NR_135910.2:n.1874_1875delinsAT
NR_135911.2:n.1994_1995delinsAT
NR_135912.2:n.2553_2554delinsAT
NR_135913.2:n.2240_2241delinsAT

HGVS	Amino-acid Change
ENST00000620350.5:c.85_86delinsAT MANE Select	ENSP00000484634.1:n.85_86delinsAT
ENST00000250173.5:c.350_351delinsAT	ENSP00000250173.2:n.350_351delinsAT
ENST00000518642.5:c.350_351delinsAT	ENSP00000428610.1:n.350_351delinsAT
ENST00000519595.5:c.85_86delinsAT	ENSP00000429791.1:n.85_86delinsAT
ENST00000522789.5:c.706_707delinsAT	ENSP00000428015.1:n.706_707delinsAT
ENST00000618342.1:c.1486_1487delinsAT	ENSP00000484802.1:n.1486_1487delinsAT
ENST00000620350.4:c.85_86delinsAT	ENSP00000484634.1:n.85_86delinsAT
NM_012472.4:c.85_86delinsAT	NP_036604.2:n.85_86delinsAT
NR_073525.1:n.1710_1711delinsAT
XM_006716538.2:c.85_86delinsAT	XP_006716601.2:n.85_86delinsAT
XM_011516950.1:c.85_86delinsAT	XP_011515252.1:n.85_86delinsAT
XM_011516952.1:c.85_86delinsAT	XP_011515254.1:n.85_86delinsAT
XM_011516953.1:c.85_86delinsAT	XP_011515255.1:n.85_86delinsAT
XM_011516954.1:c.85_86delinsAT	XP_011515256.1:n.85_86delinsAT
XR_428377.2:n.1738_1739delinsAT
NM_001321961.1:c.85_86delinsAT	NP_001308890.1:n.85_86delinsAT
NM_001321962.1:c.85_86delinsAT	NP_001308891.1:n.85_86delinsAT
NM_001321963.1:c.85_86delinsAT	NP_001308892.1:n.85_86delinsAT
NM_001321964.1:c.85_86delinsAT	NP_001308893.1:n.85_86delinsAT
NM_001321965.1:c.85_86delinsAT	NP_001308894.1:n.85_86delinsAT
NM_001321966.1:c.85_86delinsAT	NP_001308895.1:n.85_86delinsAT
NM_012472.5:c.85_86delinsAT	NP_036604.2:n.85_86delinsAT
NR_073525.2:n.1710_1711delinsAT
NR_135905.1:n.1699_1700delinsAT
NR_135906.1:n.1140_1141delinsAT
NR_135907.1:n.1386_1387delinsAT
NR_135908.1:n.1080_1081delinsAT
NR_135909.1:n.1504_1505delinsAT
NR_135910.1:n.1811_1812delinsAT
NR_135911.1:n.1890_1891delinsAT
NR_135912.1:n.2449_2450delinsAT
NR_135913.1:n.2136_2137delinsAT
XM_006716538.3:c.85_86delinsAT	XP_006716601.2:n.85_86delinsAT
XM_011516950.2:c.85_86delinsAT	XP_011515252.1:n.85_86delinsAT
XM_017013296.1:c.85_86delinsAT	XP_016868785.1:n.85_86delinsAT
XM_017013297.1:c.85_86delinsAT	XP_016868786.1:n.85_86delinsAT
XM_017013298.1:c.85_86delinsAT	XP_016868787.1:n.85_86delinsAT
NM_012472.6:c.85_86delinsAT MANE Select	NP_036604.2:n.85_86delinsAT
NM_001321961.2:c.85_86delinsAT	NP_001308890.1:n.85_86delinsAT
NM_001321962.2:c.85_86delinsAT	NP_001308891.1:n.85_86delinsAT
NM_001321963.2:c.85_86delinsAT	NP_001308892.1:n.85_86delinsAT
NM_001321964.2:c.85_86delinsAT	NP_001308893.1:n.85_86delinsAT
NM_001321965.2:c.85_86delinsAT	NP_001308894.1:n.85_86delinsAT
NM_001321966.2:c.85_86delinsAT	NP_001308895.1:n.85_86delinsAT
NR_073525.3:n.1638_1639delinsAT
NR_135905.2:n.1627_1628delinsAT
NR_135906.2:n.1068_1069delinsAT
NR_135907.2:n.1314_1315delinsAT
NR_135908.2:n.1008_1009delinsAT
NR_135909.2:n.1524_1525delinsAT
NR_135910.2:n.1874_1875delinsAT
NR_135911.2:n.1994_1995delinsAT
NR_135912.2:n.2553_2554delinsAT
NR_135913.2:n.2240_2241delinsAT