Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769265_13769266insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769265_13769266insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.13769374_13769375insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769374_13769375insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.13822374_13822375insTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_013081.1:g.180233_180234insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_013081.2:g.180233_180234insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAA...
ENST00000681290.1:c.9676-112_9676-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000505288.1:n.9676-112_9676-111insAAAAAAAAAAAAAAGAAAAAA...
ENST00000265104.4:c.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAA...
ENST00000504001.3:n.433-112_433-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_001369.2:c.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAA...
XM_005248262.2:c.9676-112_9676-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248319.1:n.9676-112_9676-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_005248262.3:c.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248319.2:n.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009177.1:c.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864666.1:n.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009178.1:c.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864667.1:n.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009179.2:c.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864668.1:n.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009180.1:c.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864669.1:n.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009181.1:c.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864670.1:n.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009182.1:c.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864671.1:n.9829-112_9829-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009185.1:c.4918-112_4918-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864674.1:n.4918-112_4918-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009186.1:c.4471-112_4471-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864675.1:n.4471-112_4471-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_017009188.1:c.3808-112_3808-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864677.1:n.3808-112_3808-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_024454388.1:c.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024310156.1:n.8734-112_8734-111insAAAAAAAAAAAAAAGAAAAAAAAA...
XM_024454389.1:c.8323-112_8323-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024310157.1:n.8323-112_8323-111insAAAAAAAAAAAAAAGAAAAAAAAA...
NM_001369.3:c.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAGAAAAAAAAAAAA...