Canonical Allele Identifier: CA730990176

Gene: INTS7

Linked Data

• dbSNP Id: rs1166993891
• MyVariant Identifiers: chr1:g.212155126_212155129del (hg19) ; chr1:g.211981784_211981787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211981784_211981787del , CM000663.2:g.211981784_211981787del	GRCh38
NC_000001.10:g.212155126_212155129del , CM000663.1:g.212155126_212155129del	GRCh37
NC_000001.9:g.210221749_210221752del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366994.8:c.1133-597_1133-594del MANE Select	ENSP00000355961.3:n.1133-597_1133-594del
ENST00000366992.7:c.1133-597_1133-594del	ENSP00000355959.3:n.1133-597_1133-594del
ENST00000366993.7:c.1133-597_1133-594del	ENSP00000355960.3:n.1133-597_1133-594del
ENST00000366994.7:c.1133-597_1133-594del	ENSP00000355961.3:n.1133-597_1133-594del
ENST00000440600.6:c.986-597_986-594del	ENSP00000388908.2:n.986-597_986-594del
ENST00000469606.5:c.*903-597_*903-594del	ENSP00000481687.1:n.*903-597_*903-594del
NM_001199809.1:c.986-597_986-594del	NP_001186738.1:n.986-597_986-594del
NM_001199811.1:c.1133-597_1133-594del	NP_001186740.1:n.1133-597_1133-594del
NM_001199812.1:c.1133-597_1133-594del	NP_001186741.1:n.1133-597_1133-594del
NM_015434.3:c.1133-597_1133-594del	NP_056249.1:n.1133-597_1133-594del
NR_037667.1:n.1390-597_1390-594del
XM_011509396.1:c.1133-597_1133-594del	XP_011507698.1:n.1133-597_1133-594del
XM_011509397.1:c.1055-597_1055-594del	XP_011507699.1:n.1055-597_1055-594del
XM_011509396.2:c.1133-597_1133-594del	XP_011507698.1:n.1133-597_1133-594del
XM_017000962.1:c.1133-597_1133-594del	XP_016856451.1:n.1133-597_1133-594del
NM_015434.4:c.1133-597_1133-594del MANE Select	NP_056249.1:n.1133-597_1133-594del
NM_001199809.2:c.986-597_986-594del	NP_001186738.1:n.986-597_986-594del
NM_001199811.2:c.1133-597_1133-594del	NP_001186740.1:n.1133-597_1133-594del
NM_001199812.2:c.1133-597_1133-594del	NP_001186741.1:n.1133-597_1133-594del
NR_037667.2:n.1287-597_1287-594del