Canonical Allele Identifier: CA993113649

Gene: INSR

Linked Data

• gnomAD v3: 19-7116781-AAACACAAAATCCTGGTTTGAAACCGTCGTTGCCCCAAAGGAGCAGCAACTGTGGAAACCCCTTGCCCTCCAGGTTCACAGTT-A
• gnomAD v4: 19-7116781-AAACACAAAATCCTGGTTTGAAACCGTCGTTGCCCCAAAGGAGCAGCAACTGTGGAAACCCCTTGCCCTCCAGGTTCACAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7116784_7116865del , CM000681.2:g.7116784_7116865del	GRCh38
NC_000019.9:g.7116795_7116876del , CM000681.1:g.7116795_7116876del	GRCh37
NC_000019.8:g.7067795_7067876del	NCBI36
NG_008852.2:g.182138_182219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*193_*274del MANE Select	ENSP00000303830.4:n.*193_*274del
ENST00000302850.9:c.*193_*274del	ENSP00000303830.4:n.*193_*274del
ENST00000341500.9:c.*193_*274del	ENSP00000342838.4:n.*193_*274del
NM_000208.2:c.*193_*274del	NP_000199.2:n.*193_*274del
NM_000208.3:c.*193_*274del	NP_000199.2:n.*193_*274del
NM_001079817.1:c.*193_*274del	NP_001073285.1:n.*193_*274del
NM_001079817.2:c.*193_*274del	NP_001073285.1:n.*193_*274del
XM_011527988.1:c.*193_*274del	XP_011526290.1:n.*193_*274del
XM_011527989.1:c.*193_*274del	XP_011526291.1:n.*193_*274del
XM_011527988.2:c.*193_*274del	XP_011526290.2:n.*193_*274del
XM_011527989.3:c.*193_*274del	XP_011526291.2:n.*193_*274del
NM_000208.4:c.*193_*274del MANE Select	NP_000199.2:n.*193_*274del
NM_001079817.3:c.*193_*274del	NP_001073285.1:n.*193_*274del