Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747375_196747376delinsAT , CM000663.2:g.196747375_196747376delinsAT	GRCh38
NC_000001.10:g.196716505_196716506delinsAT , CM000663.1:g.196716505_196716506delinsAT	GRCh37
NC_000001.9:g.194983128_194983129delinsAT	NCBI36
NG_007259.1:g.100365_100366delinsAT , LRG_47:g.100365_100366delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4786_4787delinsAT
ENST00000695970.1:c.62_63delinsAT	ENSP00000512297.1:n.62_63delinsAT
ENST00000695971.1:c.62_63delinsAT	ENSP00000512298.1:n.62_63delinsAT
ENST00000695972.1:c.835_836delinsAT	ENSP00000512299.1:n.835_836delinsAT
ENST00000695973.1:c.2122_2123delinsAT	ENSP00000512300.1:n.2122_2123delinsAT
ENST00000695974.1:c.62_63delinsAT	ENSP00000512301.1:n.62_63delinsAT
ENST00000695975.1:c.1885_1886delinsAT	ENSP00000512302.1:n.1885_1886delinsAT
ENST00000695976.1:c.62_63delinsAT	ENSP00000512303.1:n.62_63delinsAT
ENST00000695981.1:c.3580+178_3580+179delinsAT	ENSP00000512306.1:n.3580+178_3580+179delinsAT
ENST00000695984.1:c.62_63delinsAT	ENSP00000512309.1:n.62_63delinsAT
ENST00000695986.1:c.3409_3410delinsAT	ENSP00000512311.1:n.3409_3410delinsAT
ENST00000695990.1:n.792_793delinsAT
ENST00000696026.1:c.2040_2041delinsAT	ENSP00000512335.1:n.2040_2041delinsAT
ENST00000696027.1:c.62_63delinsAT	ENSP00000512336.1:n.62_63delinsAT
ENST00000696028.1:c.62_63delinsAT	ENSP00000512337.1:n.62_63delinsAT
ENST00000696029.1:c.62_63delinsAT	ENSP00000512338.1:n.62_63delinsAT
ENST00000696031.1:c.3276_3277delinsAT	ENSP00000512340.1:n.3276_3277delinsAT
ENST00000696032.1:c.3580+178_3580+179delinsAT	ENSP00000512341.1:n.3580+178_3580+179delinsAT
ENST00000696033.1:c.1160-32422_1160-32421delinsAT	ENSP00000512342.1:n.1160-32422_1160-32421delinsAT
ENST00000367429.9:c.62_63delinsAT MANE Select	ENSP00000356399.4:n.62_63delinsAT
ENST00000367429.8:c.62_63delinsAT	ENSP00000356399.4:n.62_63delinsAT
ENST00000466229.5:n.6856_6857delinsAT
NM_000186.3:c.62_63delinsAT , LRG_47t1:c.62_63delinsAT	NP_000177.2:n.62_63delinsAT
XR_001737134.2:n.3944_3945delinsAT
NM_000186.4:c.62_63delinsAT MANE Select	NP_000177.2:n.62_63delinsAT

HGVS	Amino-acid Change
ENST00000470918.2:n.4786_4787delinsAT
ENST00000695970.1:c.62_63delinsAT	ENSP00000512297.1:n.62_63delinsAT
ENST00000695971.1:c.62_63delinsAT	ENSP00000512298.1:n.62_63delinsAT
ENST00000695972.1:c.835_836delinsAT	ENSP00000512299.1:n.835_836delinsAT
ENST00000695973.1:c.2122_2123delinsAT	ENSP00000512300.1:n.2122_2123delinsAT
ENST00000695974.1:c.62_63delinsAT	ENSP00000512301.1:n.62_63delinsAT
ENST00000695975.1:c.1885_1886delinsAT	ENSP00000512302.1:n.1885_1886delinsAT
ENST00000695976.1:c.62_63delinsAT	ENSP00000512303.1:n.62_63delinsAT
ENST00000695981.1:c.3580+178_3580+179delinsAT	ENSP00000512306.1:n.3580+178_3580+179delinsAT
ENST00000695984.1:c.62_63delinsAT	ENSP00000512309.1:n.62_63delinsAT
ENST00000695986.1:c.3409_3410delinsAT	ENSP00000512311.1:n.3409_3410delinsAT
ENST00000695990.1:n.792_793delinsAT
ENST00000696026.1:c.2040_2041delinsAT	ENSP00000512335.1:n.2040_2041delinsAT
ENST00000696027.1:c.62_63delinsAT	ENSP00000512336.1:n.62_63delinsAT
ENST00000696028.1:c.62_63delinsAT	ENSP00000512337.1:n.62_63delinsAT
ENST00000696029.1:c.62_63delinsAT	ENSP00000512338.1:n.62_63delinsAT
ENST00000696031.1:c.3276_3277delinsAT	ENSP00000512340.1:n.3276_3277delinsAT
ENST00000696032.1:c.3580+178_3580+179delinsAT	ENSP00000512341.1:n.3580+178_3580+179delinsAT
ENST00000696033.1:c.1160-32422_1160-32421delinsAT	ENSP00000512342.1:n.1160-32422_1160-32421delinsAT
ENST00000367429.9:c.62_63delinsAT MANE Select	ENSP00000356399.4:n.62_63delinsAT
ENST00000367429.8:c.62_63delinsAT	ENSP00000356399.4:n.62_63delinsAT
ENST00000466229.5:n.6856_6857delinsAT
NM_000186.3:c.62_63delinsAT , LRG_47t1:c.62_63delinsAT	NP_000177.2:n.62_63delinsAT
XR_001737134.2:n.3944_3945delinsAT
NM_000186.4:c.62_63delinsAT MANE Select	NP_000177.2:n.62_63delinsAT