Canonical Allele Identifier: CA528078663

Gene: IVNS1ABP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185298054del , CM000663.2:g.185298054del	GRCh38
NC_000001.10:g.185267186del , CM000663.1:g.185267186del	GRCh37
NC_000001.9:g.183533809del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006469.5:c.1910del MANE Select	NP_006460.2:p.Thr637LysfsTer15
ENST00000367498.8:c.1910del MANE Select	ENSP00000356468.3:p.Thr637LysfsTer15
NM_006469.4:c.1910del	NP_006460.2:p.Thr637LysfsTer15
ENST00000367498.7:c.1910del	ENSP00000356468.3:p.Thr637LysfsTer15
ENST00000459929.5:n.2618del
ENST00000475046.5:n.1533del
ENST00000480769.5:n.2110del
XM_005244843.2:c.1256del	XP_005244900.1:p.Thr419LysfsTer15
XM_005244843.3:c.1256del	XP_005244900.1:p.Thr419LysfsTer15
XM_011509079.1:c.1931del	XP_011507381.1:p.Thr644LysfsTer15
XM_011509079.3:c.1931del	XP_011507381.1:p.Thr644LysfsTer15
XM_011509080.1:c.1664del	XP_011507382.1:p.Thr555LysfsTer15
XM_011509080.3:c.1664del	XP_011507382.1:p.Thr555LysfsTer15
XM_011509081.1:c.1277del	XP_011507383.1:p.Thr426LysfsTer15
XM_017000084.1:c.1277del	XP_016855573.1:p.Thr426LysfsTer15