Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117710464_117710465insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT , CM000671.2:g.117710464_117710465insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	GRCh38
NC_000009.11:g.120472742_120472743insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT , CM000671.1:g.120472742_120472743insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	GRCh37
NC_000009.10:g.119512563_119512564insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NCBI36
NG_011475.1:g.11283_11284insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT
NG_011475.2:g.11062_11063insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000496197.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000697624.1:n.200+5899_200+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT
ENST00000697625.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513362.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000697636.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513366.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000697637.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513367.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000697664.1:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513389.1:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000697665.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513390.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000697666.1:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000513391.1:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000355622.8:c.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT MANE Select	ENSP00000363089.5:n.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000394487.5:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000377997.4:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000472304.2:c.94-1925_94-1924insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000496429.1:n.94-1925_94-1924insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000642985.1:c.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000493686.1:n.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000646089.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000496197.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000665764.1:c.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000499745.1:n.93+5899_93+5900insTTTTTTTTCTTTTTTTTTTTTTT...
ENST00000355622.6:c.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000363089.5:n.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000394487.4:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	ENSP00000377997.4:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTT...
ENST00000472304.1:n.178-1925_178-1924insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT
NM_003266.3:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NP_003257.1:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTT...
NM_138554.4:c.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NP_612564.1:n.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTT...
NM_138557.2:c.-340-1925_-340-1924insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NP_612567.1:n.-340-1925_-340-1924insTTTTTTTTCTTTTTTTTTTTTTTTT...
NM_138554.5:c.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT MANE Select	NP_612564.1:n.260+1735_260+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTT...
NM_003266.4:c.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NP_003257.1:n.140+1735_140+1736insTTTTTTTTCTTTTTTTTTTTTTTTTTT...
NM_138557.3:c.-340-1925_-340-1924insTTTTTTTTCTTTTTTTTTTTTTTTTTTATGTACTATATTAAGGTATCCCCCCTCTCCCCTTTTTTTTTTTT	NP_612567.1:n.-340-1925_-340-1924insTTTTTTTTCTTTTTTTTTTTTTTTT...