Canonical Allele Identifier: CA562026905

Gene: TMEM232

Linked Data

• dbSNP Id: rs1252438020
• gnomAD v2: 5-109826463-TTGATATCCACTTACAAAAAAATGAATGTGGACTCTTATCTCACATC-T
• gnomAD v3: 5-110490762-TTGATATCCACTTACAAAAAAATGAATGTGGACTCTTATCTCACATC-T
• gnomAD v4: 5-110490762-TTGATATCCACTTACAAAAAAATGAATGTGGACTCTTATCTCACATC-T
• MyVariant Identifiers: chr5:g.109826464_109826509del (hg19) ; chr5:g.110490763_110490808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110490763_110490808del , CM000667.2:g.110490763_110490808del	GRCh38
NC_000005.9:g.109826464_109826509del , CM000667.1:g.109826464_109826509del	GRCh37
NC_000005.8:g.109854363_109854408del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455884.7:c.1703+37780_1703+37825del MANE Select	ENSP00000401477.2:n.1703+37780_1703+37825del
ENST00000455884.6:c.1703+37780_1703+37825del	ENSP00000401477.2:n.1703+37780_1703+37825del
ENST00000508571.6:n.1018+77639_1018+77684del
ENST00000512003.7:c.*998-65892_*998-65847del	ENSP00000427785.2:n.*998-65892_*998-65847del
ENST00000515518.6:n.1376-65892_1376-65847del
NM_001039763.3:c.1703+37780_1703+37825del	NP_001034852.3:n.1703+37780_1703+37825del
XM_006714670.2:c.1703+37780_1703+37825del	XP_006714733.1:n.1703+37780_1703+37825del
XM_011543552.1:c.1703+37780_1703+37825del	XP_011541854.1:n.1703+37780_1703+37825del
XM_011543553.1:c.1703+37780_1703+37825del	XP_011541855.1:n.1703+37780_1703+37825del
XM_011543554.1:c.1703+37780_1703+37825del	XP_011541856.1:n.1703+37780_1703+37825del
XM_011543555.1:c.1646+37780_1646+37825del	XP_011541857.1:n.1646+37780_1646+37825del
XM_011543556.1:c.1646+37780_1646+37825del	XP_011541858.1:n.1646+37780_1646+37825del
XM_011543559.1:c.1704-13490_1704-13445del	XP_011541861.1:n.1704-13490_1704-13445del
XM_011543560.1:c.1349+37780_1349+37825del	XP_011541862.1:n.1349+37780_1349+37825del
XM_011543564.1:c.1456-65892_1456-65847del	XP_011541866.1:n.1456-65892_1456-65847del
XM_011543565.1:c.1456-76159_1456-76114del	XP_011541867.1:n.1456-76159_1456-76114del
XM_011543566.1:c.1205+37780_1205+37825del	XP_011541868.1:n.1205+37780_1205+37825del
XM_011543568.1:c.1102-65892_1102-65847del	XP_011541870.1:n.1102-65892_1102-65847del
XM_011543569.1:c.824+37780_824+37825del	XP_011541871.1:n.824+37780_824+37825del
XR_948284.1:n.2551+37780_2551+37825del
XR_948285.1:n.2304-60707_2304-60662del
XR_948286.1:n.2403+16804_2403+16849del
XR_948287.1:n.2302+77639_2302+77684del
XM_006714670.3:c.1703+37780_1703+37825del	XP_006714733.1:n.1703+37780_1703+37825del
XM_011543552.2:c.1703+37780_1703+37825del	XP_011541854.1:n.1703+37780_1703+37825del
XM_011543553.2:c.1703+37780_1703+37825del	XP_011541855.1:n.1703+37780_1703+37825del
XM_011543555.2:c.1646+37780_1646+37825del	XP_011541857.1:n.1646+37780_1646+37825del
XM_011543556.2:c.1646+37780_1646+37825del	XP_011541858.1:n.1646+37780_1646+37825del
XM_011543559.2:c.1704-13490_1704-13445del	XP_011541861.1:n.1704-13490_1704-13445del
XM_011543560.2:c.1349+37780_1349+37825del	XP_011541862.1:n.1349+37780_1349+37825del
XM_011543564.3:c.1456-65892_1456-65847del	XP_011541866.1:n.1456-65892_1456-65847del
XM_011543565.3:c.1456-76159_1456-76114del	XP_011541867.1:n.1456-76159_1456-76114del
XM_011543566.2:c.1205+37780_1205+37825del	XP_011541868.1:n.1205+37780_1205+37825del
XM_017009707.1:c.1205+37780_1205+37825del	XP_016865196.1:n.1205+37780_1205+37825del
XM_024446149.1:c.1456-65892_1456-65847del	XP_024301917.1:n.1456-65892_1456-65847del
XR_001742181.1:n.2565+37780_2565+37825del
XR_001742182.1:n.2316+77639_2316+77684del
XR_948284.2:n.2566+37780_2566+37825del
XR_948285.2:n.2318-60707_2318-60662del
XR_948287.2:n.2316+77639_2316+77684del
NM_001039763.4:c.1703+37780_1703+37825del MANE Select	NP_001034852.3:n.1703+37780_1703+37825del