Canonical Allele Identifier: CA883072763

Gene: TRPM4

Linked Data

• dbSNP Id: rs1176199160
• gnomAD v3: 19-49157990-CGGAGGAGGGGGATGGGAGG-C
• gnomAD v4: 19-49157990-CGGAGGAGGGGGATGGGAGG-C
• MyVariant Identifiers: chr19:g.49661248_49661266del (hg19) ; chr19:g.49157991_49158009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49157992_49158010del , CM000681.2:g.49157992_49158010del	GRCh38
NC_000019.9:g.49661249_49661267del , CM000681.1:g.49661249_49661267del	GRCh37
NC_000019.8:g.54353061_54353079del	NCBI36
NG_027551.1:g.5234_5252del
NG_027551.2:g.5234_5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.24+102_24+120del MANE Select	ENSP00000252826.4:n.24+102_24+120del
ENST00000252826.9:c.24+102_24+120del	ENSP00000252826.4:n.24+102_24+120del
ENST00000427978.6:c.24+102_24+120del	ENSP00000407492.1:n.24+102_24+120del
ENST00000595519.5:c.24+102_24+120del	ENSP00000469893.1:n.24+102_24+120del
ENST00000596338.5:n.59+102_59+120del
ENST00000598502.5:c.24+102_24+120del	ENSP00000470229.1:n.24+102_24+120del
ENST00000598691.5:c.24+102_24+120del	ENSP00000473231.1:n.24+102_24+120del
ENST00000598697.5:c.24+102_24+120del	ENSP00000468989.1:n.24+102_24+120del
ENST00000599628.5:c.24+102_24+120del	ENSP00000483753.1:n.24+102_24+120del
NM_001195227.1:c.24+102_24+120del	NP_001182156.1:n.24+102_24+120del
NM_017636.3:c.24+102_24+120del	NP_060106.2:n.24+102_24+120del
XM_011527046.1:c.-143+102_-143+120del	XP_011525348.1:n.-143+102_-143+120del
NM_001321281.1:c.24+102_24+120del	NP_001308210.1:n.24+102_24+120del
NM_001321282.1:c.-1349+102_-1349+120del	NP_001308211.1:n.-1349+102_-1349+120del
NM_001321283.1:c.-143+102_-143+120del	NP_001308212.1:n.-143+102_-143+120del
NM_001321285.1:c.-306+102_-306+120del	NP_001308214.1:n.-306+102_-306+120del
NM_017636.4:c.24+102_24+120del MANE Select	NP_060106.2:n.24+102_24+120del
NM_001195227.2:c.24+102_24+120del	NP_001182156.1:n.24+102_24+120del
NM_001321281.2:c.24+102_24+120del	NP_001308210.1:n.24+102_24+120del
NM_001321282.2:c.-1349+102_-1349+120del	NP_001308211.1:n.-1349+102_-1349+120del
NM_001321283.2:c.-143+102_-143+120del	NP_001308212.1:n.-143+102_-143+120del
NM_001321285.2:c.-306+102_-306+120del	NP_001308214.1:n.-306+102_-306+120del