Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.32168914_32168960delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA , CM000670.2:g.32168914_32168960delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	GRCh38
NC_000008.10:g.32026430_32026476delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA , CM000670.1:g.32026430_32026476delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	GRCh37
NC_000008.9:g.32145972_32146018delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NCBI36
NG_012005.1:g.534163_534209delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA
NG_012005.2:g.534693_534739delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519301.6:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000429582.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000650856.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000498216.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000650866.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000499045.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000651149.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000498375.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000651335.1:c.72-426914_72-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA
ENST00000652698.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000499008.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000518104.5:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000430053.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000519301.5:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000429582.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCT...
ENST00000520407.5:c.746-426914_746-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000434640.1:n.746-426914_746-426868delinsGACTTTTTCTTCAT...
ENST00000523534.5:c.305-426914_305-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	ENSP00000429067.1:n.305-426914_305-426868delinsGACTTTTTCTTCAT...
NM_001159995.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153467.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001159999.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153471.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001160001.1:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153473.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_013962.2:c.746-426914_746-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_039256.2:n.746-426914_746-426868delinsGACTTTTTCTTCATCTTCCC...
XM_011544512.1:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_011542814.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
NM_001159995.2:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153467.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001159999.2:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153471.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001160001.2:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153473.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001322201.1:c.-555-426914_-555-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001309130.1:n.-555-426914_-555-426868delinsGACTTTTTCTTCATC...
NM_001322202.1:c.-504-426914_-504-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001309131.1:n.-504-426914_-504-426868delinsGACTTTTTCTTCATC...
XM_011544512.2:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_011542814.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
XM_017013365.2:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_016868854.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
XM_017013366.2:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_016868855.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
XM_017013367.1:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_016868856.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
XM_017013371.2:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_016868860.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
XM_017013372.2:c.122-426914_122-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	XP_016868861.1:n.122-426914_122-426868delinsGACTTTTTCTTCATCTT...
NM_001159995.3:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153467.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001159999.3:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153471.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001160001.3:c.38-426914_38-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001153473.1:n.38-426914_38-426868delinsGACTTTTTCTTCATCTTCC...
NM_001322201.2:c.-555-426914_-555-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001309130.1:n.-555-426914_-555-426868delinsGACTTTTTCTTCATC...
NM_001322202.2:c.-504-426914_-504-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_001309131.1:n.-504-426914_-504-426868delinsGACTTTTTCTTCATC...
NM_013962.3:c.746-426914_746-426868delinsGACTTTTTCTTCATCTTCCCCAAATGATGTTTGAAGCCTCCCATCTA	NP_039256.2:n.746-426914_746-426868delinsGACTTTTTCTTCATCTTCCC...